A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a...

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Detalles Bibliográficos
Autores principales: Sato, Shigeru, Morimoto, Takeshi, Hotta, Kikuko, Fujikado, Takashi, Nishida, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418288/
https://www.ncbi.nlm.nih.gov/pubmed/30886724
http://dx.doi.org/10.1038/s41439-019-0045-y

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