Document Detail

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
MedLine Citation:
PMID:  18247426     Owner:  NLM     Status:  MEDLINE    
Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.
Renata Fonseca; Marcelo A Costa-Lima; Viviana Cosentino; Iêda M Orioli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-02-28     Completed Date:  2008-05-07     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  658-60     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
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MeSH Terms
Abnormalities, Multiple / genetics*
Amino Acid Substitution
Base Sequence
Craniosynostoses / genetics
Cysteine / genetics
Molecular Sequence Data
Point Mutation*
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Serine / genetics
Skin Abnormalities / genetics
Skull / abnormalities
Reg. No./Substance:
52-90-4/Cysteine; 56-45-1/Serine; EC protein, human; EC, Fibroblast Growth Factor, Type 2

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