Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 923-932

  Slaney, Sarah F ^b   Oldridge, Michael ^b   Hurst, Jane A ^b   Morriss Kay, Gillian M ^b   Hall, Christine M ^b   Poole, Michael D ^b   Wilkie, Andrew O M ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FEMALE; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION SITE; SYNDACTYLY;

ACROCEPHALOSYNDACTYLIA; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDACTYLY;

EID: 0029883637     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Apert E (1906) De l'acrocéphalosyndactylie. Bull Soc Med Hop (Paris) 23:1310-1330
2. Blank CE (1960) Apert's syndrome (a type of acrocephalosyndactyly) - observations on a British series of thirty-nine cases. Ann Hum Genet 24:151-164
3. Blauth W, von Törne O (1978) Der 'Apert-Fuss.' Z Orthop Ihre Grenzgeb 116:1-6
4. Carter CO (1969) Genetics of common disorders. Br Med Bull 25:52-57
5. Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A (1995) Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575-582
6. Cohen MM Jr, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35:36-45