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Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Clinical genetics - 1 Oct 2023

Gnanasekaran Harshavardhini, Chandrasekhar Sathya Priya, Kandeeban Suganya, Periyasamy Porkodi, Bhende Muna, Khetan Vikas, Gupta Neerja, Kabra Madhulika, Namboothri Sheela, Sen Parveen, Sripriya Sarangapani

Abstract excerpt

Bardet-Biedl syndrome (BBS), a rare primary form of ciliopathy, with heterogeneous clinical and genetic presentation is characterized by rod cone dystrophy, obesity, polydactyly, urogenital abnormalities, and cognitive impairment. Here, we delineate the genetic profile in a cohort of 108 BBS patients from India by targeted gene sequencing-based approach for a panel of ciliopathy (including BBS) and other...

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PMID: 37431782
DOI: 10.1111/cge.14398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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