You are in the accessibility menu

Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/67385
Title: 
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
Author(s): 
Institution: 
  • Universidade Estadual de Campinas (UNICAMP)
  • Universidade de São Paulo (USP)
  • Universidade Estadual Paulista (UNESP)
ISSN: 
1552-4825
Abstract: 
We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.
Issue Date: 
1-Sep-2003
Citation: 
American Journal of Medical Genetics, v. 121 A, n. 3, p. 266-270, 2003.
Time Duration: 
266-270
Keywords: 
  • Ankyloblepharon
  • Anus
  • Autosomal dominant inheritance
  • Cleft lip/palate
  • Ectodermal dysplasia
  • Imperforate
  • IRF6 gene
  • P63 gene
  • interferon
  • interferon regulatory factor 6
  • protein p53
  • unclassified drug
  • anus atresia
  • blepharocheilodontic syndrome
  • clinical examination
  • clinical feature
  • disease course
  • familial disease
  • family history
  • gestation period
  • hypothyroidism
  • mental development
  • motor development
  • phenotype
  • physical examination
  • preschool child
  • priority journal
  • Blepharophimosis
  • Cleft Lip
  • Cleft Palate
  • Diagnosis, Differential
  • DNA-Binding Proteins
  • Family Health
  • Hypothyroidism
  • Interferon Regulatory Factors
  • Membrane Proteins
  • Phenotype
  • Phosphoproteins
  • Syndrome
  • Tooth Abnormalities
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins
Source: 
http://dx.doi.org/10.1002/ajmg.a.20223
URI: 
Access Rights: 
Acesso restrito
Type: 
outro
Source:
http://repositorio.unesp.br/handle/11449/67385
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

There are no files associated with this item.
 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.