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

Autor: Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)

Abstract 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. Th

Externí odkaz: https://doaj.org/article/6991731ee49c418aabb747b9a403609a

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

Autor: Rahman, Muhammad M.¹ (AUTHOR), Uddin, KM Furkan^2,3 (AUTHOR), Al Jezawi, Nesreen K.⁴ (AUTHOR), Karuvantevida, Noushad^4,5 (AUTHOR), Akter, Hosneara² (AUTHOR), Dity, Nushrat J.² (AUTHOR), Rahaman, Md. Ashiquir² (AUTHOR), Begum, Maksuda² (AUTHOR), Rahaman, Md. Atikur² (AUTHOR), Baqui, Md. Abdul^2,3 (AUTHOR), Salwa, Zeena⁶ (AUTHOR), Islam, Serajul⁷ (AUTHOR), Woodbury‐Smith, Marc^8,9 (AUTHOR), Basiruzzaman, Mohammed^2,10 (AUTHOR), Uddin, Mohammed^4,9 (AUTHOR) dafil.mohammed@gmail.com

Publikováno v: Molecular Genetics & Genomic Medicine. Oct2019, Vol. 7 Issue 10, pN.PAG-N.PAG. 1p.