1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

Microduplication of chromosome 1q21.1 is observed in ~0.03% of adults. It has a highly variable, incompletely penetrant phenotype that can include intellectual disability, global developmental delay, specific learning disabilities, autism, schizophrenia, heart anomalies and dysmorphic features. We e...

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Bibliografiske detaljer
Udgivet i:NPJ Genom Med
Main Authors: Xavier, Jean, Zhou, Bo, Bilan, Frédéric, Zhang, Xianglong, Gilbert-Dussardier, Brigitte, Viaux-Savelon, Sylvie, Pattni, Reenal, Ho, Steve S., Cohen, David, Levinson, Douglas F., Urban, Alexander E., Laurent-Levinson, Claudine
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6105585/
https://ncbi.nlm.nih.gov/pubmed/30155272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0059-2
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