A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome;Clinical Case Reports;2021-01-27
2. Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability;American Journal of Medical Genetics Part A;2018-09
3. The human clinical phenotypes of altered CHRNA7 copy number;Biochemical Pharmacology;2015-10
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