A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
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DOI: 10.1038/s10038-019-0693-2
Abstract: 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… read more here.
Keywords: poc1a variant; seven patients; classic soft; soft syndrome ... See more keywords