Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing

Bardet-Biedl syndrome (BBS) is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. This disorder is genetically heterogeneous. Until now, a total of nineteen genes have been identified for BB...

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Detalhes bibliográficos
Publicado no:Cell J
Main Authors: Nikkhah, Emad, Safaralizadeh, Reza, Mohammadiasl, Javad, Tahmasebi Birgani, Maryam, Hosseinpour Feizi, Mohammad Ali, Golchin, Neda
Formato: Artigo
Idioma:Inglês
Publicado em: Royan Institute 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5893301/
https://ncbi.nlm.nih.gov/pubmed/29633607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22074/cellj.2018.5012.
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