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Article

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.

Clinical genetics - 1 Jul 2021

Mardy Anne H, Hodoglugil Ugur, Yip Tiffany, Slavotinek Anne M

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6-year-old male with early onset retinal dystrophy, postaxial polydactyly, truncal obesity and motor delays. Exome sequencing revealed a homozygous variant predicted to affect splicing of the IFT74 gene, c.1685-1G > T....

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PMID: 33748949
DOI: 10.1111/cge.13962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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