A carregar...

Bardet-Biedl syndrome: A rare genetic disease

Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features. There are 17 BBS genes (BBS1-BBS17) descr...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Valverde, Diana, Castro-Sánchez, Sheila, Álvarez-Satta, María
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2013
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020962/
https://ncbi.nlm.nih.gov/pubmed/27625843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13051
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!