Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 252-255

  Schaefer, F ^a   Anderson, C ^b   Can, B ^a   Say, B ^a  

^a Chapman Inst of Medical Genetics   (United States)

^b Hillcrest Medical Center   (United States)

Author keywords

Antley Bixler syndrome; Craniostenosis; FGFR2; Pfeiffer syndrome type II

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ANTLEY BIXLER SYNDROME; ARTICLE; CASE REPORT; CODON; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; EXOPHTHALMOS; FEMALE; GENE MUTATION; HUMAN; INFANT; PHENOTYPE; PRIORITY JOURNAL; SKULL MALFORMATION; THUMB MALFORMATION; TOE MALFORMATION;

ACROCEPHALOSYNDACTYLIA; AMINO ACID SEQUENCE; CODON; CRANIOFACIAL DYSOSTOSIS; CYSTEINE; EXONS; FEMALE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; TRYPTOPHAN;

EID: 0032559318     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980123)75:3<252::AID-AJMG4>3.0.CO;2-S     Document Type: Article

References (10)

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