Article
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Clinical genetics - 1 Apr 2025
Altunoglu Umut, Turgut Gozde Tutku, Özturan Esin Karakılıç, Kalaycı Tuğba, Kaya Mert, Toksoy Güven, Baş Firdevs, Kayserili Hülya, Darendeliler Feyza
Abstract excerpt
SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic POC1A variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic POC1A variants have been reported in 26 families. This study aims to broaden the phenotypic and genotypic spectrum of SOFTS with emphasis on the long-term effects of growth hormone (GH) therapy. We...
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