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Article

A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.

International ophthalmology - 1 Feb 2021

Bahmanpour Zahra, Daneshmandpour Yousef, Kazeminasab Somayeh, Khalil Khalili Soudabeh, Alehabib Elham, Chapi Marjan, Soosanabadi Mohsen, Darvish Hossein, Emamalizadeh Babak

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS: OMIM 209,900) is a rare ciliopathic human genetic disorder that affects many parts of the body systems. BBS is a genetically heterogeneous disorder with a wide spectrum of clinical manifestations which makes its diagnosis and management more challenging. RetNet reports 18 genes that cause BBS and each of genes has had several known mutations. Genetic studies suggesting that...

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PMID: 32926352
DOI: 10.1007/s10792-020-01588-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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