Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

Abstract Background Limited research has been conducted regarding the elucidation of genotype–phenotype correlations within the 20q13.33 region. The genotype–phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeleti...

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Главные авторы:	Jianlong Zhuang, Na Zhang, Junyu Wang, Yuying Jiang, Hegan Zhang, Chunnuan Chen
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Wiley 2024-04-01
Серии:	Molecular Genetics & Genomic Medicine
Предметы:	14q32.31q32.33 microduplication 17q25.3 microduplication 20q13.33 microdeletion chromosomal microarray analysis copy number variants
Online-ссылка:	https://doi.org/10.1002/mgg3.2429
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