The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyp...

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Bibliographic Details
Main Authors: Magdalena Budisteanu, Sorina Mihaela Papuc, Ioana Streata, Mihai Cucu, Andrei Pirvu, Simona Serban-Sosoi, Alina Erbescu, Emanuela Andrei, Catrinel Iliescu, Doina Ioana, Emilia Severin, Mihai Ioana, Aurora Arghir
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
ASDs
clinical significance
phenotype variability
CHRNA7 duplications
chromosomal microarrays
Online Access:https://www.mdpi.com/2073-4425/12/7/1025

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https://www.mdpi.com/2073-4425/12/7/1025

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