Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 5, 2008, Pages 658-660

  Fonseca, Renata ^a   Costa Lima, Marcelo A ^a,b   Cosentino, Viviana ^c   Orioli, Iẽda M ^a  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^c CEMIC   (Argentina)

Author keywords

Acanthosis nigricans; Anogenital anomalies; Cloverleaf skull; Craniosynostosis; Crouzonoid like phenotype; Cutis gyrata; Prominent umbilical stump; Skin furrows; Skin tags

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; CYSTEINE; FGFR2 PROTEIN, HUMAN; SERINE;

ACANTHOSIS NIGRICANS; ARTICLE; BEARE STEVENSON SYNDROME; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENE MUTATION; HUMAN; INFANT; MALFORMATION SYNDROME; PRIORITY JOURNAL; SKIN MALFORMATION; AMINO ACID SUBSTITUTION; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; GENETICS; MALE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; POINT MUTATION; SKULL; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CRANIOSYNOSTOSES; CYSTEINE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SERINE; SKIN ABNORMALITIES; SKULL; SYNDROME;

EID: 43049089458     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32176     Document Type: Article

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