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Article

Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.

Ophthalmic genetics - 1 Feb 2024

Grudzinska Pechhacker Monika K, Molnar Anna, Pekkola Pacheco Nadja, Thonberg Håkan, Querat Laurence, Birkeldh Ulrika, Nordgren Ann, Lindstrand Anna

Abstract excerpt

BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted to outline all clinical features. Here, we present a family with a milder phenotype of SCLT1-related disease. MATERIAL AND METHODS: Comprehensive eye...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37246745
DOI: 10.1080/13816810.2023.2215332

Genes

SCLT1

Provenance

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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