Associated Papers
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Wongkittichote P et al.
Clinical Genetics, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_2_RNA_studies__n_58_
A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2020
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND et al.
American Journal of Medical Genetics. Part A, 2018
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C et al.
American Journal of Medical Genetics. Part A, 2017
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
May M et al.
Human Molecular Genetics, 2015
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