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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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
Предметы:
Clinical Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549592/
https://ncbi.nlm.nih.gov/pubmed/32715656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1418
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