Associated Papers
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation.
Yan K et al.
Frontiers in Genetics, 2022
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C et al.
Clinical Genetics, 2015
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