Associated Papers
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT et al.
Clinical Genetics, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Turgut GT et al.
Clinical Genetics, 2022
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