Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.

Kristy Iskandar,Elisabeth S Herini,Agung Triono,Marissa L Hadiyanto,Andika P Nugrahanto,Gunadi

Annals of medicine and surgery (2012)（2023）

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摘要

We report a novel de novo ARX variant in an affected female with a NDD. Our study confirms that the variant might cause remarkable pleiotropy phenotypes in females. Moreover, WES could help to identify the pathogenic variant in NDD patients with diverse phenotypes.

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关键词

ARX variant,female patient,neurodevelopmental disorder,remarkable pleiotropy phenotypes,whole-exome sequencing

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