Clinical and molecular diagnosis should be consistent [3]

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 188-189

  Gripp, Karen W ^a   Zackai, Elaine H ^b   Cohen Jr , M Michael ^c  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c DALHOUSIE UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FGFR3; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MEDICAL GENETICS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ACROCEPHALOSYNDACTYLIA; CRANIOSYNOSTOSES; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NUCLEAR PROTEINS; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 0042388244     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (8)

1. Chotzen F. 1932. Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndactylie, Dysostosis craniofacialis, und Hypertelorismus). Monatschr Kinderheilkd 55:97-122.
2. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. 2002. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet 110:136-143.
3. Cohen MM Jr. Fibroblast growth factor mutations. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Molecular basis of inborn errors of development. New York: Oxford University Press (in press).
4. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin A-L, Munnich A, Bonaventure J. 1997. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15:42-46.
5. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41.
6. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH. 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.
7. Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pantke HC, Gorlin RJ. 1975. The Saethre-Chotzen syndrome. Birth Defects Orig Art Ser 11(2):190-225.
8. Saethre H. 1931. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit, und Symptomatologie). Dtsch Z Nervenheilkd 117:533-555.