A carregar...

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 mult...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Beales, P L, Warner, A M, Hitman, G A, Thakker, R, Flinter, F A
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050859/
https://ncbi.nlm.nih.gov/pubmed/9039982
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!