Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosi...

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Detalles Bibliográficos
Autores principales: Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586153/
https://www.ncbi.nlm.nih.gov/pubmed/34764295
http://dx.doi.org/10.1038/s41525-021-00255-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586153/
https://www.ncbi.nlm.nih.gov/pubmed/34764295
http://dx.doi.org/10.1038/s41525-021-00255-z

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