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Article

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.

BMC medical genomics - 21 Aug 2021

Li Guoqiang, Chang Guoying, Wang Chen, Yu Tingting, Li Niu, Huang Xiaodong, Wang Xiumin, Wang Jian, Wang Jiwen, Yao Ruen

Abstract excerpt

BACKGROUND: Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT and vPOC1A syndrome include dyslipidemia with insulin resistance and acanthosis nigricans. To our knowledge, this is the first...

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Identifiers

PMID: 34419044
DOI: 10.1186/s12920-021-01055-1
PMCID: PMC8379828

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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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