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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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Clinical Reports
Accesso online: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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