SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature

American Journal of Medical Genetics

Volumn 102, Issue 1, 2001, Pages 1-10

  Nanni, Luisa ^a   Ming, Jeffrey E ^b   Du, Yangzhu ^b   Hall, Roger K ^c   Aldred, Michael ^a   Bankier, Agnes ^a,b   Muenke, Maximilian ^a,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

HPE; Mid line defects; Review; Short stature; Single central incisor; SIX3; Solitary median maxillary central incisor (SMMCI); Sonic Hedgehog (SHH)

Indexed keywords

DNA; SONIC HEDGEHOG PROTEIN;

ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; HUMAN; INCISOR; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT STATURE; SINGLE STRAND CONFORMATION POLYMORPHISM; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; CHOANAL ATRESIA; CONSTRICTION, PATHOLOGIC; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INCISOR; MALE; MUTATION; PEDIGREE; POINT MUTATION; PROTEINS; SYNDROME; TRANS-ACTIVATORS;

ERINACEIDAE;

EID: 0035934018     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U     Document Type: Article

References (77)

1. Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect
2. Microphthalmia with single central incisor and hypopituitarism
3. Single maxillary central incisor in a girl with del(18p) syndrome
4. Clinical evaluation of six patients with a single maxillary central incisor
5. Single maxillary central incisor and coloboma in hypomelanosis of Ito
6. Single central incisor in familial holoprosencephaly
7. Incisive superieure unique, hypopituitarisme et anomalie chromosomique monosomie 18p
8. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
9. A single maxillary incisor as a manifestation of an ectodermal dysplasia
10. Incisivo mascellare centrale unico e oloprosencefalia
11. Selected clinical research involving the central nervous system
12. Holoprosencephaly: A family showing dominant inheritance and variable expression
13. 18p- syndrome with a single central maxillary incisor
14. Connation of maxillary incisors
15. Single maxillary central incisor in association with mid-line anomalies
16. Strong variable clinical presentation in 3 patients with 7q terminal deletion
17. Single central maxillary incisor and holoprosencephaly
18. The congenital absence of an upper central incisor: Report of a case
19. Holoprosencephaly: A defect in brain patterning
20. Mutations in TGIF cause holoprosencephaly and link Nodal signaling to human neural axis determination
21. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome
22. MR imaging in idiopathic growth hormone deficiency
23. The Shh pathway in tooth development: Defects in Gli2 and Gli3 mutants
24. Solitary maxillary central incisor as a new finding in CHARGE association: A report of two cases
25. Single central maxillary incisor and holoprosencephaly
26. Observations on midline deformity and the solitary maxillary central incisor syndrome
27. Hypodontia of both primary and permanent central upper incisors: Description of a case
28. Congenital nasal pyriform aperture stenosis and single central maxillary incisor: CT and MRI findings
29. Single deciduous and permanent central incisor: Congenital absence or median fusion
30. Autosomal dominant inheritance of the DeMyer sequence
31. Clinician's view of hypodontia
32. Palate structure in human holoprosencephaly correlates with the facial malformation and demonstrates a new palatal developmental field
33. Aplasia of right internal carotid artery and hypopituitarism
34. Single central maxillary incisor in the midline as the mild form of the holoprosencephaly
35. A hereditary congenitally missing maxillary central incisor
36. Ocular coloboma associated with a solitary maxillary central incisor and growth failure: Manifestations of holoprosencephaly
37. Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis
38. Holoprosencephaly
39. The single maxillary central primary incisor: Report of case
40. Single maxillary central incisors in the midline
41. Two unrelated cases of single maxillary central incisor with 7q terminal deletion
42. Pituitary hypoplasia associated with a single central maxillary incisor
43. Holoprosencephaly: From Homer to Hedgehog
44. Triple-X syndrome accompanied by a single maxillary central incisor: Case report
45. Holoprosencephaly
46. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
47. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
48. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
49. Holoprosencephaly: Molecular study of a California population
50. Expression of the Sonic Hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
51. Solitary maxillary central incisor: Clinical report
52. Monosuperocentroincisivodontic dwarfism
53. Solitary maxillary central incisor and short stature
54. Holoprosencephaly: A paradigm for the complex genetics of brain development
55. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
56. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
57. Single central maxillary incisor with nasal pyriform aperture stenosis-CT diagnosis prior to tooth eruption
58. Patterning of the embryonic forebrain
59. Clinical evaluation of two patients with a single maxillary central incisor
60. Absence of upper central incisor
61. Oligodontia: A study of its prevalence and variation in 4032 children
62. Solitary incisor syndrome and holoprosencephaly
63. Congenitally missing maxillary central incisor
64. Ein solitarer mittlerer oberer schneidezahn und holoprosencephalie bei geschwistern
65. 18p monosomy with midline defects and a de novo satellite identified by FISH
66. Nasal pyriform aperture stenosis and the holoprosencephaly spectrum
67. Regulation of organogenesis: Common molecular mechanisms regulating the development of teeth and other organs
68. Incisive superieure unique et deficit en STH
69. Congenital nasal pyriform aperture stenosis with a single central maxillary incisor
70. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
71. Solitary maxillary central incisor and normal stature
72. Tooth abnormalities
73. Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: A possible "new" form of ectodermal dysplasia
74. Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma
75. Solitary maxillary central incisor in the midline associated with systemic disorders