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

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Title: Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
Authors: Rahman MM; Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh., Uddin KF; NeuroGen Technologies Ltd., Dhaka, Bangladesh.; Holy Family Red Crescent Medical College, Dhaka, Bangladesh., Al Jezawi NK; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Karuvantevida N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Department of Biotechnology, Bharathidasan University, Tiruchirappalli, India., Akter H; NeuroGen Technologies Ltd., Dhaka, Bangladesh., Dity NJ; NeuroGen Technologies Ltd., Dhaka, Bangladesh., Rahaman MA; NeuroGen Technologies Ltd., Dhaka, Bangladesh., Begum M; NeuroGen Technologies Ltd., Dhaka, Bangladesh., Rahaman MA; NeuroGen Technologies Ltd., Dhaka, Bangladesh., Baqui MA; NeuroGen Technologies Ltd., Dhaka, Bangladesh.; Holy Family Red Crescent Medical College, Dhaka, Bangladesh., Salwa Z; Square Hospital Ltd., Dhaka, Bangladesh., Islam S; IBN Sina Medical Imaging Center, Dhaka, Bangladesh., Woodbury-Smith M; Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; The Centre for Applied Genomics, Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Basiruzzaman M; NeuroGen Technologies Ltd., Dhaka, Bangladesh.; Department of Neurology, Dhaka Medical College Hospital, Dhaka, Bangladesh., Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; The Centre for Applied Genomics, Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00954. Date of Electronic Publication: 2019 Sep 01.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2324-9269
DOI:10.1002/mgg3.954