Lanean...

Update on the Genetics of Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in know...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: M'hamdi, O., Ouertani, I., Chaabouni-Bouhamed, H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3977223/
https://ncbi.nlm.nih.gov/pubmed/24715851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000357054
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!