Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

Clinical Genetics

Volumn 61, Issue 3, 2002, Pages 218-221

  Wang, Tzu Jou ^a   Huang, C B ^a   Tsai, F J ^b   Wu, J Y ^b   Lai, R B ^a   Hsiao, M ^c  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Beare Stevenson syndrome; FGFR2; Mutation

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; MEMBRANE PROTEIN; NUCLEOTIDE; TYROSINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARNOLD CHIARI MALFORMATION; ARTICLE; BEARE STEVENSON CUTIS GYRATA SYNDROME; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CRANIOPLASTY; DNA DETERMINATION; EAR MALFORMATION; EYE MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; ORBIT RECONSTRUCTION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SKULL MALFORMATION; TAIWAN; UMBILICAL CORD;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; CEREBRAL VENTRICLES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDROME; TAIWAN; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036524154     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610309.x     Document Type: Article

References (13)

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