| No. Registro | 001693432 |
| Tipo de material | ARTIGO DE PERIODICO - INTERNACIONAL |
| Cód. publicação |  10.1016/j.braindev.2007.07.012 DOI |
| Entrada Principal | Richieri-Costa, Antonio |
| Título | Variable phenotypic manifestations of a K44N mutation in the TGIF gene. |
| Imprenta | Amsterdam, 2008. |
| Descrição | p. 203-205. |
| Idioma | Inglês |
| Nota Local | MProd Digital |
| Assunto | HOLOPROSENCEFALIA |
| | GENES |
| Autor Secundário | Ribeiro, Lucilene Arilho (*) NAC Fundação para o Estudo e Tratamento das Deformidades Crânio-Faciais - Genética, Bauru, São Paulo |
| Fonte | In: Brain & Development, Amsterdam, v. 30, n. 3, p. 203-205, Mar. 2008, ISSN: 0387-7604 |
| Localiz.Eletrônica | e-mail do autor -- mailto://richieri@usp.br |
| Localiz.Eletrônica |
 "Clicar" sobre o botão para acesso ao Curriculo Lattes de Antonio Richieri da Costa |
| |
"Clicar" sobre o botão para acesso ao texto |
| Resumo/Outros | The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF. This boy presented a p.K44N (c.132G>T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed |
| |
|
| Unidade USP | HRAC -- HOSPITAL REABILITAÇÃO DE ANOMALIAS CRANIOFACIAIS |
