Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala179...

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Detalles Bibliográficos
Autores principales: Hettiarachchi, D., Pathirana, B. A. P. S., Kumarasiri, P. J., Dissanayake, V. H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875291/
https://www.ncbi.nlm.nih.gov/pubmed/31781420
http://dx.doi.org/10.1155/2019/2687595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875291/
https://www.ncbi.nlm.nih.gov/pubmed/31781420
http://dx.doi.org/10.1155/2019/2687595

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