Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
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Informa UK Limited
Reference20 articles.
1. Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 612513: 9 August 2016. World Wide Web URL. Available from: https://omim.org/. Accessed January 24, 2024.
2. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
3. Orphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM 1997. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349. Accessed January 24, 2024.
4. Haploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome
5. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis
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