Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus

European Journal of Human Genetics

Volumn 4, Issue 5, 1996, Pages 283-291

  Pulleyn, Louise J ^a  

^a NORTHWICK PARK HOSPITAL   (United Kingdom)

Author keywords

Atypical phenotype; Craniosynostosis; FGFR2

Indexed keywords

ARGININE; CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR; GLUTAMIC ACID; GLYCINE; SERINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE;

EID: 0029983966     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472215     Document Type: Article

References (2)

1. Cohen MM Jr: Craniosynostosis: Diagnosis, Evaluation and Management. New York, Raven Press, 1986.
2. Winter RM, Baraitser M: The London Dysmorphology Database. Oxford, Oxford University Press, 1996.