Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

Bardet–Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1–19) have been identified, of which mutations in BBS1 are most common...

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Dades bibliogràfiques
Publicat a:J Am Soc Nephrol
Autors principals: Forsythe, Elizabeth, Sparks, Kathryn, Best, Sunayna, Borrows, Sarah, Hoskins, Bethan, Sabir, Ataf, Barrett, Timothy, Williams, Denise, Mohammed, Shehla, Goldsmith, David, Milford, David V., Bockenhauer, Detlef, Foggensteiner, Lukas, Beales, Philip L.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2017
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5328148/
https://ncbi.nlm.nih.gov/pubmed/27659767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015091029
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