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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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Detalles Bibliográficos
Autores principales:	Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Rehman, Fazal-Ur-, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7925018/ https://www.ncbi.nlm.nih.gov/pubmed/33688495 http://dx.doi.org/10.1155/2021/6626015

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