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

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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Bibliographic Details
Main Authors: Emad Nikkhah, Reza Safaralizadeh, Javad Mohammadiasl, Maryam Tahmasebi Birgani, Mohammad Ali Hosseinpour Feizi, Neda Golchin
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2018-04-01
Series:Cell Journal
Subjects:
Bardet-Biedl Syndrome
BBS12
Mutation
Sequence Analysis
Online Access:http://celljournal.org/journal/article/20096/download

Internet

http://celljournal.org/journal/article/20096/download

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