Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

BACKGROUND: The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in...

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Detalles Bibliográficos
Autores principales: Mehvari, Sepideh, Larti, Farzaneh, Hu, Hao, Fattahi, Zohreh, Beheshtian, Maryam, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Ropers, Hans‐Hilger, Kalscheuer, Vera M., Auld, Daniel, Kahrizi, Kimia, Riazalhosseini, Yasser, Najmabadi, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549592/
https://www.ncbi.nlm.nih.gov/pubmed/32715656
http://dx.doi.org/10.1002/mgg3.1418

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549592/
https://www.ncbi.nlm.nih.gov/pubmed/32715656
http://dx.doi.org/10.1002/mgg3.1418

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