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Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Clinical genetics - 1 Feb 2023

Wongkittichote Parith, Choi Tae-Ik, Kim Oc-Hee, Riley Kacie, Koeberl Dwight, Narayanan Vinodh, Ramsey Keri, Balak Chris, Schwartz Charles E, Cueto-Gonzalez Anna Maria, Casadesus Francina Munell, Kim Cheol-Hee, Shinawi Marwan S

Abstract excerpt

ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated with Wieacker-Wolff syndrome (MIM# 314580), an X-linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding...

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PMID: 36250278
DOI: 10.1111/cge.14248

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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