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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha: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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