A carregar...

Treacher Collins syndrome: etiology, pathogenesis and prevention

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which ar...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Trainor, Paul A, Dixon, Jill, Dixon, Michael J
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986179/
https://ncbi.nlm.nih.gov/pubmed/19107148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.221
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!