A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Pediatric Neurosurgery

Volumn 37, Issue 2, 2002, Pages 97-99

  Akai, Takuya ^a   Iizuka, Hideaki ^a   Kishibe, Miyuki ^a   Kawakami, Shigehiko ^a   Kobayashi, Azusa ^a   Ozawa, Tetsuo ^b  

^a KANAZAWA MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

Author keywords

Beare Stevenson cutis gyrata syndrome; Craniosynostosis; Fibroblast growth factor receptor gene

Indexed keywords

CYSTEINE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; BEARE STEVENSON CUTIS GYRATA SYNDROME; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHILDHOOD DISEASE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CRANIOFACIAL DYSMORPHISM; CRANIOFACIAL SYNOSTOSIS; DISEASE COURSE; DNA DETERMINATION; EXON; EXOPHTHALMOS; FACE DYSMORPHIA; FEMALE; FGFR GENE; FOREHEAD; GENE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HYDROCEPHALUS; INFANT; MISSENSE MUTATION; MUTATION; NERVE; PERINATAL PERIOD; PRIORITY JOURNAL; UMBILICAL CORD;

ABNORMALITIES, MULTIPLE; ACANTHOSIS NIGRICANS; ANAL CANAL; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; GENITALIA, FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; POINT MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDROME; UMBILICAL CORD;

EID: 0036355766     PISSN: 10162291     EISSN: None     Source Type: Journal    
DOI: 10.1159/000065112     Document Type: Article

References (14)

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7. Jackson-Weiss syndrome: Identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
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14. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans