Atypical crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis

Cleft Palate-Craniofacial Journal

Volumn 49, Issue 3, 2012, Pages 373-377

  Sharma, Vikram P ^a,b   Wall, Steven A ^b   Lord, Helen ^b   Lester, Tracy ^a   Wilkie, Andrew O M ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Crouzon syndrome; FGFR2; Sagittal synostosis

Indexed keywords

ARGININE; CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CROUZON SYNDROME; DNA SEQUENCE; FACE DYSMORPHIA; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HUMAN; INFANT; MALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKULL SURGERY; SYNOSTOSIS; AMINO ACID SUBSTITUTION; CRANIOFACIAL SYNOSTOSIS; GENETICS; MUTATION; RADIOGRAPHY;

AMINO ACID SUBSTITUTION; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; HUMANS; INFANT; MALE; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84864044307     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/11-185     Document Type: Article

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