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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Detalles Bibliográficos
Autores principales: Nikkhah, Emad, Safaralizadeh, Reza, Mohammadiasl, Javad, Tahmasebi Birgani, Maryam, Hosseinpour Feizi, Mohammad Ali, Golchin, Neda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893301/
https://www.ncbi.nlm.nih.gov/pubmed/29633607
http://dx.doi.org/10.22074/cellj.2018.5012.

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893301/
https://www.ncbi.nlm.nih.gov/pubmed/29633607
http://dx.doi.org/10.22074/cellj.2018.5012.

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