Document Detail


Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
MedLine Citation:
PMID:  18247426     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Renata Fonseca; Marcelo A Costa-Lima; Viviana Cosentino; Iêda M Orioli
Related Documents :
20135186 - Lemierre syndrome: report of five new cases and literature review.
23573436 - Cat scratch disease presenting as breast cancer: a report of an unusual case.
507026 - Hypernephroma with nonmetastatic liver dysfunction (stauffer's syndrome) and hypercalce...
17543556 - Renal vein thrombosis.
19507216 - Sialoliths or phleboliths?
21160586 - Esophageal obstruction due to enteral feed bezoar: a case report and literature review.
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.
Affiliation:
ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Amino Acid Substitution
Base Sequence
Craniosynostoses / genetics
Cysteine / genetics
Humans
Infant
Male
Molecular Sequence Data
Point Mutation*
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Serine / genetics
Skin Abnormalities / genetics
Skull / abnormalities
Syndrome
Chemical
Reg. No./Substance:
52-90-4/Cysteine; 56-45-1/Serine; EC 2.7.10.1/FGFR2 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Next Document:  Bone differentiation of marrow-derived mesenchymal stem cells using beta-tricalcium phosphate-algina...