Article
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Molecular genetics & genomic medicine - 1 Jan 2020
Myers Lynnea, Blyth Moira, Moradkhani Kamran, Hranilović Dubravka, Polesie Sam, Isaksson Johan, Nordgren Ann, Bucan Maja, Vincent Marie, Bölte Sven, Anderlid Britt-Marie, Tammimies Kristiina
Abstract excerpt
BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a...
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