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Updated: Jul 4, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report]

Yun Gao1, Fengjiao Li2, Rong Luo3

  • 1Department of Audiology and Vestibular Medicine，Senior Department of Otolaryngology Head and Neck Surgery，the Sixth Medical Center of Chinese PLA General Hospital，National Clinical Research Center for Otolaryngologic Diseases，Beijing，100048，China.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery
|February 1, 2024
PubMed

Keywords:
ATP1A3 geneCAPOS syndromecerebellar ataxiaoptic atrophysensorineural hearing loss

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