Developmental and genetic perspectives on pierre robin sequence

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 163, Issue 4, 2013, Pages 295-305

  Tan, Tiong Yang ^b   Kilpatrick, Nicky ^b   Farlie, Peter G ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NONE

Author keywords

Pierre Robin sequence

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ARTICLE; CAMPOMELIC DYSPLASIA; CHROMOSOME ABERRATION; CHROMOSOME DELETION 22Q11; CHROMOSOME MUTATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CRANIOFACIAL DEVELOPMENT; DEVELOPMENTAL DISORDER; FEEDING DIFFICULTY; FETAL ALCOHOL SYNDROME; GROWTH, DEVELOPMENT AND AGING; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPODONTIA; JAW MALFORMATION; MANDIBLE HYPOPLASIA; MANDIBULOFACIAL DYSOSTOSIS; MARSHALL SYNDROME; MEDICAL GENETICS; NEUROMUSCULAR FUNCTION; NEWBORN INTENSIVE CARE; NONHUMAN; PARTIAL TRISOMY; PATHOGENESIS; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; SECONDARY PALATE; SPONDYLOEPIPHYSEAL DYSPLASIA; STICKLER SYNDROME; TOOTH MALFORMATION; TRACHEOTOMY; TRANSCRIPTION INITIATION; UPPER RESPIRATORY TRACT OBSTRUCTION; AIRWAY OBSTRUCTION; APNEA; CLEFT PALATE; GENETICS; MANDIBLE; PATHOLOGY; PATHOPHYSIOLOGY;

AIRWAY OBSTRUCTION; APNEA; CLEFT PALATE; HUMANS; INTENSIVE CARE, NEONATAL; MANDIBLE; PHENOTYPE; PIERRE ROBIN SYNDROME;

EID: 84886245599     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31374     Document Type: Article

References (95)

1. Abadie V, Morisseau-Durand M, Beyler C, Manach Y, Couly G. 2002. Brainstem dysfunction: A possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr 161:275-280.
2. Aboura A, Coulomb-L'Hermine A, Audibert F, Capron F, Frydman R, Tachdjian G. 2002. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly. Am J Med Genet 108:153-159.
3. Andersson E-M, Sandvik L, Abyholm F, Semb G. 2010. Clefts of the secondary palate referred to the oslo cleft team: Epidemiology and cleft severity in 994 individuals. Cleft Palate Craniofac J 47:335-342.
4. Banker BQ. 1986. Arthrogryposis multiplex congenita: Spectrum of pathologic changes. Hum Pathol 17:656-672.
5. Barron F, Woods C, Kuhn K, Bishop J, Howard MJ, Clouthier DE. 2011. Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis. Development 138:2249-2259.
6. Baudon J, Renault F, Goutet J, Flores-Guevara R, Soupre V, Gold F, Vazquez M. 2002. Motor dysfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing electromyography and esophageal manometry. J Pediatrics 140:719-723.
7. Baujat G, Faure C, Zaouche A, Viarme F, Couly G, Abadie V. 2001. Oroesophageal motor disorders in Pierre Robin syndrome. J Pediatr Gastroenterol Nutr 32:297-302.
8. Bell DM, Leung KK, Wheatley SC, Ng LJ, Zhou S, Ling KW, Sham MH, Koopman P, Tam PP, Cheah KS. 1997. SOX9 directly regulates the type-II collagen gene. Nat Genet 16:174-178.
9. Benko S, Fantes JA, Amiel J, Kleinjan D-J, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez M-P, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, FitzPatrick DR, Lyonnet S. 2009a. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41:359-364.
10. Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. 2009b. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41:359-364.
11. Bhaskar SN, Weinmann JP, Schour I. 1953. Role of Meckel's cartilage in the development and growth of the rat mandible. J Dent Res 32:398-410.
12. Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR. 2010. Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet 19:774-789.
13. Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, Tarabykin V. 2006. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet 79:668-678.
14. Bush PG, Williams AJ. 1983. Incidence of the Robin Anomalad (Pierre Robin syndrome). Br J Plast Surg 36:434-437.
15. Carey JC, Fineman RM, Ziter FA. 1982. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr 101:858-864.
16. Chai Y, Jiang X, Ito Y, Bringas P, Han J, Rowitch DH, Soriano P, McMahon AP, Sucov HM. 2000. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 127:1671-1679.
17. Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W. 1994. Confirmation of proximal 1q duplication using fluorescence in situ hybridization. Am J Med Genet 50:28-31.
18. Cohen MM Jr. 1999. Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet 84:311-315.
19. Cousley RR, Wilson DJ. 1990. The effects of surgical section of the embryonic chick mandibular arch. Anat Embryol 182:401-408.
20. Cousley RR, Wilson DJ. 1992. Hemifacial microsomia: Developmental consequence of perturbation of the auriculofacial cartilage model? Am J Med Genet 42:461-466.
21. Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. 2012. Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): A case report and review of the literature. BMC Med Genet 13:19.
22. de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. 1998. Ebstein anomaly associated with rearrangements of chromosomal region 11q. Am J Med Genet 80:157-159.
23. Diewert VM. 1980. The role of craniofacial growth in palatal shelf elevation. In: RM P, Christiansen R, editors. Current Research Trends in Prenatal Craniofacia Development. New York: Elsevier. pp 165-186.
24. Diewert VM. 1982. Contributions of differential growth of cartilages to changes in craniofacial morphology. Prog Clin Biol Res 101:229-242.
25. Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. 2006. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 70:973-980.
26. Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML. 2011. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics 127:936-948.
27. Ferguson MW. 1978. Palatal shelf elevation in the Wistar rat fetus. J Anat 125:555-577.
28. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ. 1994. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530.
29. Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. 2012. Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet Part A 158A:1529-1534.
30. Gendron-Maguire M, Mallo M, Zhang M, Gridley T. 1993. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 75:1317-1331.
31. Genecov DG, Barcelo CR, Steinberg D, Trone T, Sperry E. 2009. Clinical experience with the application of distraction osteogenesis for airway obstruction. J Craniofac Surg 20:1817-1821.
32. Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey PA, Noethen M, Dewerchin M, Francois G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M. 2011. FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet 88:150-161.
33. Gordon CT, Tan TY, Benko S, FitzPatrick D, Lyonnet S, Farlie PG. 2009. Long-range regulation at the SOX9 locus in development and disease. J Med Genet 46:649-656.
34. Grieshammer U, Lewandoski M, Prevette D, Oppenheim RW, Martin GR. 1998. Muscle-specific cell ablation conditional upon Cre-mediated DNA recombination in transgenic mice leads to massive spinal and cranial motoneuron loss. Dev Biol 197:234-247.
35. Herron BJ, Lu W, Rao C, Liu S, Peters H, Bronson RT, Justice MJ, McDonald JD, Beier DR. 2002. Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet 30:185-189.
36. Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J. 2001a. Pierre Robin sequence: A series of 117 consecutive cases. J Pediatr 139:588-590.
37. Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J. 2001b. Pierre Robin sequence: A series of 117 consecutive cases. J Pediatr 139:588-590.
38. Houdayer C, Portnoi MF, Vialard F, Soupre V, Crumiere C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M. 2001. Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. Am J Med Genet 102:219-226.
39. Houzelstein D, Cohen A, Buckingham ME, Robert B. 1997. Insertional mutation of the mouse Msx1 homeobox gene by an nlacZ reporter gene. Mech Dev 65:123-133.
40. Ishizeki K, Saito H, Shinagawa T, Fujiwara N, Nawa T. 1999. Histochemical and immunohistochemical analysis of the mechanism of calcification of Meckel's cartilage during mandible development in rodents. J Anat 194:265-277.
41. Jakobsen LP, Knudsen MA, Lespinasse J, Garcia Ayuso C, Ramos C, Fryns JP, Bugge M, Tommerup N. 2006. The genetic basis of the Pierre Robin sequence. Cleft Palate Craniof J 43:155-159.
42. Jamshidi N, Macciocca I, Dargaville PA, Thomas P, Kilpatrick N, McKinlay Gardner RJ, Farlie PG. 2004. Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J Med Genet 41:e1.
43. Knottnerus AC, de Jong DJA, Haumann TJ, Mulder JW. 2001. Higher incidence of twins in infants with Pierre Robin sequence. Cleft Palate Craniof J 38:284-284.
44. Kuchler EC, da Motta LG, Vieira AR, Granjeiro JM. 2011. Side of dental anomalies and taurodontism as potential clinical markers for cleft subphenotypes. Cleft Palate Craniof J 48:103-108.
45. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, Oda H, Kuwaki T, Cao WH, Kamada N, et al. 1994. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368:703-710.
46. Laitinen SH, Ranta R. 1998. Sizes of dental arches in young adult patients with Pierre Robin sequence and isolated cleft palate. Acta Odontol Scand 56:85-89.
47. Larson M, Hellquist R, Jakobsson OP. 1998. Dental abnormalities and ectopic eruption in patients with isolated cleft palate. Scand J Plast Reconstr Surg 32:203-212.
48. Le Douarin N. 1982. The neural crest. Cambridge: Cambridge University Press.
49. Le Lievre CS, Le Douarin NM. 1975. Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol 34:125-154.
50. Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. 2007. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 71:67-75.
51. Letra A, Menezes R, Granjeiro JM, Vieira AR. 2007. Defining subphenotypes for oral clefts based on dental development. J Dent Res 86:986-991.
52. Luke S, Bennett HS, Pitter JH, Verma RS. 1992. A new case of monosomy for 17q25-qter due to a maternal translocation [t(3;17)(p12;q24)]. Ann Genet 35:48-50.
53. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. 2002. The phenotype of survivors of campomelic dysplasia. J Med Genet 39:597-602.
54. Melkoniemi M, Koillinen H, Mannikko M, Warman ML, Pihlajamaa T, Kaariainen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. 2003. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet 11:265-270.
55. Miettinen PJ, Chin JR, Shum L, Slavkin HC, Shuler CF, Derynck R, Werb Z. 1999. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet 22:69-73.
56. Moessinger AC. 1983. Fetal akinesia deformation sequence: An animal model. Pediatrics 72:857-863.
57. Mori-Akiyama Y, Akiyama H, Rowitch DH, de Crombrugghe B. 2003. Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest. Proc Natl Acad Sci USA 100:9360-9365.
58. Murray SA, Oram KF, Gridley T. 2007. Multiple functions of Snail family genes during palate development in mice. Development 134:1789-1797.
59. Ng LJ, Wheatley S, Muscat GE, Conway-Campbell J, Bowles J, Wright E, Bell DM, Tam PP, Cheah KS, Koopman P. 1997. SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol 183:108-121.
60. Noden DM. 1983. The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues. Dev Biol 96:144-165.
61. Persson M, Sandy J, Kilpatrick N, Becker M, Svensson H. 2013. Educational achievements in Pierre Robin Sequence. J Plast Surg Hand Surg 47:36-39.
62. Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. 1999. Campomelic dysplasia translocation breakpoints are scattered over 1Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 65:111-124.
63. Pihko H, Therman E, Uchida IA. 1981. Partial 11q trisomy syndrome. Hum Genet 58:129-134.
64. Printzlau A, Andersen M. 2004. Pierre Robin sequence in Denmark: A retrospective population-based epidemiological study. Cleft Palate Craniof J 41:47-52.
65. Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, Ding J, Ferguson MW, Doetschman T. 1995. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 11:409-414.
66. Ranta R. 1986. A review of tooth formation in children with cleft lip/palate. Am J Orthod Dentofacial Orthop 90:11-18.
67. Ricks JE, Ryder VM, Bridgewater LC, Schaalje B, Seegmiller RE. 2002. Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: an oral clefting model supporting the Pierre-Robin sequence. Teratology 65:116-120.
68. Robin P. 1923. A fall of the base of the tongue considered as a new cause of nasopharyngeal respiratory impairment. Bull Acad Natl Med (Paris) 89:37.
69. Rodriguez JI, Palacios J, Ruiz A, Sanchez M, Alvarez I, Demiguel E. 1992. Morphological changes in long bone development in fetal akinesia deformation sequence: An experimental study in curarized rat fetuses. Teratology 45:213-221.
70. Ross RB, Marmentini R, Tompson B. 2001. Absence of permanent teeth in unilateral and bilateral cleft lip and palate, cleft palate, and Robin sequence. 58th Annual Meeting of the American Cleft Palate-Craniofacial Association. Minneapolis, Minn, USA. 63.
71. Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. 2011. Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet Part A 155A:1646-1653.
72. Said E, Cuschieri A, Vermeesch J, Fryns JP. 2011. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. Am J Med Genet Part A 155A:1390-1392.
73. Schubert J, Jahn H, Berginski M. 2005. Experimental aspects of the pathogenesis of Robin sequence. Cleft Palate Craniof J 42:372-376.
74. Scott AR, Tibesar RJ, Lander TA, Sampson DE, Sidman JD. 2011. Mandibular distraction osteogenesis in infants younger than 3 months. Arch Facial Plast Surg 13:173-179.
75. Seegmiller RE, Fraser FC. 1977. Mandibular growth retardation as a cause of cleft palate in mice homozygous for the chondrodysplasia gene. J Embryol Exp Morphol 38:227-238.
76. Sheffield LJ, Reiss JA, Strohm K, Gilding M, Opitz JM, Reynolds JF. 1987. A genetic follow-up study of 64 patients with the Pierre Robin complex. Am J Med Genet 28:25-36.
77. Sherer DM, Metlay LA, Woods JR Jr. 1995. Lack of mandibular movement manifested by absent fetal swallowing: A possible factor in the pathogenesis of micrognathia. Am J Perinatol 12:30-33.
78. Shprintzen RJ. 1988. Pierre Robin, micrognathia, and airway obstruction: The dependency of treatment on accurate diagnosis. Int Anesthesiol Clin 26:64-71.
79. Shprintzen RJ, Singer L. 1992. Upper airway obstruction and the Robin sequence. Int Anesthesiol Clin 30:109-114.
80. Stalker HJ, Gray BA, Zori RT. 2001. Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. Am J Med Genet 103:339-341.
81. Stewart K, Uetani N, Hendriks W, Tremblay ML, Bouchard M. 2013. Inactivation of LAR family phosphatase genes Ptprs and Ptprf causes craniofacial malformations resembling Pierre-Robin sequence. Development 140:3413-3422.
82. Suri S, Ross RB, Tompson BD. 2006. Mandibular morphology and growth with and without hypodontia in subjects with Pierre Robin sequence. Am J Orthod Dentofacial Orthop 130:37-46.
83. Tannure PN, Oliveira CA, Maia LC, Vieira AR, Granjeiro JM, de Castro Costa M. 2012. Prevalence of dental anomalies in nonsyndromic individuals with cleft lip and palate: A systematic review and meta-analysis. Cleft Palate Craniof J 49:194-200.
84. Taya Y, O'Kane S, Ferguson MW. 1999. Pathogenesis of cleft palate in TGF-beta3 knockout mice. Development 126:3869-3879.
85. Tibesar RJ, Scott AR, McNamara C, Sampson D, Lander TA, Sidman JD. 2010. Distraction osteogenesis of the mandible for airway obstruction in children: Long-term results. Otolaryngol Head Neck Surg 143:90-96.
86. Tudela C, Formoso MA, Martinez T, Perez R, Aparicio M, Maestro C, Del Rio A, Martinez E, Ferguson M, Martinez-Alvarez C. 2002. TGF-beta3 is required for the adhesion and intercalation of medial edge epithelial cells during palate fusion. Int J Dev Biol 46:333-336.
87. van den Elzen AP, Semmekrot BA, Bongers EM, Huygen PL, Marres HA. 2001. Diagnosis and treatment of the Pierre Robin sequence: Results of a retrospective clinical study and review of the literature. Eur J Pediatr 160:47-53.
88. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. 2005. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76:652-662.
89. Verzi MP, McCulley DJ, De Val S, Dodou E, Black BL. 2005. The right ventricle, outflow tract, and ventricular septum comprise a restricted expression domain within the secondary/anterior heart field. Dev Biol 287:134-145.
90. Vieira AR. 2008. Unraveling human cleft lip and palate research. J Dent Res 87:119-125.
91. Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA. 2006. The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin Dysmorphol 15:127-132.
92. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, et al. 1994. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120.
93. Wallerstein R, Desposito F, Aviv H, Schenk M, Wallerstein DF. 1992. Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease. Cleft Palate Craniof J 29:77-79.
94. Wyganowska-Świaogonektkowska M, Przystańska A. 2011. The Meckel's cartilage in human embryonic and early fetal periods. Anat Sci Int 86:98-107.
95. Yan YL, Willoughby J, Liu D, Crump JG, Wilson C, Miller CT, Singer A, Kimmel C, Westerfield M, Postlethwait JH. 2005. A pair of Sox: distinct and overlapping functions of zebrafish sox9 co-orthologs in craniofacial and pectoral fin development. Development 132:1069-1083.