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Article

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Documenta ophthalmologica. Advances in ophthalmology - 1 Oct 2024

Pincay Jorge, Rodriguez Marilyn, Kaushal Divya, Tsang Stephen H

Abstract excerpt

PURPOSE: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by pleiotropism that affects multiple organ systems. The primary features of BBS include rod-cone dystrophy, renal anomalies, post axial polydactyly, and neurologic deficits. The clinical picture of BBS is extensively heterogenous, with inter and intra familial patients varying in levels of syndromic manifestations and severity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39078565
DOI: 10.1007/s10633-024-09985-8

Genes

ARL6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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