Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Background. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s in patients exhibiting clinical f...

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Bibliographic Details
Main Authors: Ghazanfar Ali, null Sadia, Jia Nee Foo, Abdul Nasir, Chu-Hua Chang, Elaine GuoYan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-ul-Batool, Syed Akif Raza Kazmi, Naheed Bashir Awan, Abdul Hameed Khan, Fazal-Ur- Rehman, Madiha Khalid, Abdul Wali, Samina Sarwar, Wasim Akhtar, Ansar Ahmed Abbasi, Rameez Nisar
Format: Article
Language:English
Published: Hindawi Limited 2021-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2021/6626015

Internet

http://dx.doi.org/10.1155/2021/6626015

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