Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report

INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disa...

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Detalles Bibliográficos
Autores principales: Bogliş, Alina, Cosma, Adriana S., Tripon, Florin, Bãnescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437857/
https://www.ncbi.nlm.nih.gov/pubmed/32872024
http://dx.doi.org/10.1097/MD.0000000000021632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437857/
https://www.ncbi.nlm.nih.gov/pubmed/32872024
http://dx.doi.org/10.1097/MD.0000000000021632

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