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Article

A novel ZC4H2 variant in a female with severe respiratory complications.

Brain & development - 1 Sept 2022

Wakabayashi Tomohiro, Mizukami Miyako, Terada Kojiro, Ishikawa Aki, Hinotsu Shiro, Kobayashi Masaki, Kato Koji, Ogi Tomoo, Tsugawa Takeshi, Sakurai Akihiro

Abstract excerpt

INTRODUCTION: An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not being possible due to the deformity resulting from in this disease. Here we report a female with arthrogryposis multiplex congenita with a severe...

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PMID: 35504761
DOI: 10.1016/j.braindev.2022.04.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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