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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/10696
Title: 
A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities
Author(s): 
Institution: 
  • Universidade de São Paulo (USP)
  • Universidade Estadual Paulista (UNESP)
ISSN: 
1552-4825
Abstract: 
Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.
Issue Date: 
15-Dec-2007
Citation: 
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007.
Time Duration: 
3137-3139
Publisher: 
Wiley-Blackwell
Keywords: 
  • tall stature
  • minor facial anomalies
  • specific language and learning problems
  • autosomal dominant inheritance
  • new syndrome
  • 22q21 region
Source: 
http://dx.doi.org/10.1002/ajmg.a.32024
URI: 
Access Rights: 
Acesso restrito
Type: 
outro
Source:
http://repositorio.unesp.br/handle/11449/10696
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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