Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1000 loci, and...

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Detalles Bibliográficos
Autores principales: Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Mesias, Roxana, Ahmadifard, Azadeh, Sanchez, Elena, Habibi, Arman, Alehabib, Elham, Johari, Amir Hossein, Emamalizadeh, Babak, Jamali, Faezeh, Chapi, Marjan, Jamshidi, Javad, Kajiwara, Yuji, Paisán-Ruiz, Coro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976666/
https://www.ncbi.nlm.nih.gov/pubmed/31969655
http://dx.doi.org/10.1038/s41598-020-57929-4

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