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Article

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

Journal of human genetics - 1 Jun 2016

Ko Jung Min, Jung Soyoon, Seo Jieun, Shin Choong Ho, Cheong Hae Il, Choi Murim, Kim Ok-Hwa, Cho Tae-Joon

Abstract excerpt

SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirmed SOFT syndrome have been reported to date, all of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report an...

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PMID: 26791357
DOI: 10.1038/jhg.2015.174

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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