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

Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting a novel de novo frameshift variant in the ARX gene...

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Detalles Bibliográficos
Autores principales: Iskandar, Kristy, Herini, Elisabeth S., Triono, Agung, Hadiyanto, Marissa L., Nugrahanto, Andika P., Gunadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949785/
https://www.ncbi.nlm.nih.gov/pubmed/36845779
http://dx.doi.org/10.1097/MS9.0000000000000197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949785/
https://www.ncbi.nlm.nih.gov/pubmed/36845779
http://dx.doi.org/10.1097/MS9.0000000000000197

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