Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

BACKGROUND: Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID’s etiology is significant, with more than 100 implicated genes and loci currently identified. The majority of such variants are rare and de novo genetic mut...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Rahman, Muhammad M., Uddin, KM Furkan, Al Jezawi, Nesreen K., Karuvantevida, Noushad, Akter, Hosneara, Dity, Nushrat J., Rahaman, Md. Ashiquir, Begum, Maksuda, Rahaman, Md. Atikur, Baqui, Md. Abdul, Salwa, Zeena, Islam, Serajul, Woodbury‐Smith, Marc, Basiruzzaman, Mohammed, Uddin, Mohammed
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785528/
https://ncbi.nlm.nih.gov/pubmed/31475484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.954
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