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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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online dostop: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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