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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785528/ https://www.ncbi.nlm.nih.gov/pubmed/31475484 http://dx.doi.org/10.1002/mgg3.954

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