Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.
Kristy IskandarElisabeth S HeriniAgung TrionoMarissa L HadiyantoAndika P Nugrahantonull GunadiPublished in: Annals of medicine and surgery (2012) (2023)
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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