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

Umut Altunoglu,Gozde Tutku Turgut,Esin Karakilic Ozturan,Tugba Kalayci, Mert Kaya,Guven Toksoy,Firdevs Bas,Hulya Kayserili,Feyza Darendeliler

CLINICAL GENETICS（2024）

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关键词
3M,low uE3,POC1A,primordial dwarfism,SOFT syndrome,SRS
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