Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intel...
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
About this item
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Author / Creator
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 and Uddin, Mohammed
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 mutations.
Methods
We have applied whole‐geno...
Alternative Titles
Full title
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6991731ee49c418aabb747b9a403609a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6991731ee49c418aabb747b9a403609a
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.954
