Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes

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 phenot...

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Veröffentlicht in:	Clinical genetics 2024-12
Hauptverfasser:	Altunoglu, Umut, Turgut, Gozde Tutku, Özturan, Esin Karakılıç, Kalaycı, Tuğba, Kaya, Mert, Toksoy, Güven, Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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