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Article

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Journal of human genetics - 1 Jan 2020

Al-Kindi Adila, Al-Shehhi Maryam, Westenberger Ana, Beetz Christian, Scott Patrick, Brandau Oliver, Abbasi-Moheb Lia, Yüksel Zafer, Bauer Peter, Rolfs Arndt, Grüning Nana-Maria

Abstract excerpt

Biallelic pathogenic variants in POC1A are ultra rare. They have been reported in 13 families as causing either Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis (SOFT) syndrome, or a milder partially overlapping phenotype, variant POC1A-related syndrome. This pleiotropic effect is likely precipitated by the variant's location and respective affected protein domain. Here, we describe seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31767933
DOI: 10.1038/s10038-019-0693-2

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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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