A novel ZC4H2 variant in a female with severe respiratory complications-Reference-Cited by-同舟云学术

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A novel ZC4H2 variant in a female with severe respiratory complications

Published:2022-09 Issue:8 Volume:44 Page:571-577
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita;Frints;Hum Mutat,2019

2. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity;Hirata;Am J Hum Genet,2013

3. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons;May;Hum Mol Genet,2015

4. A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation;Okubo;Brain Dev,2018

5. ZC4H2 deletions can cause severe phenotype in female carriers;Zanzottera;Am J Med Genet A,2017

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice;Genes;2024-08-28

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