Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "BioMed Research International"
DOI: 10.1155/2021/6626015
Abstract: 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… read more here.
Keywords: novel homozygous; bardet biedl; homozygous missense; biedl syndrome ... See more keywords