22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation

BACKGROUND: Chromosomal 22q11.2 dosage changes in the recurrent region can lead to a series of clinically variable pediatric syndromes. This study conducted a retrospective analysis of microarray tested cases with 22q11.2 recurrent copy number variations (CNVs) at our laboratory from September 2018...

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Detalles Bibliográficos
Autores principales: Xue, Jiangyang, Shen, Ru, Xie, Min, Liu, Yingwen, Zhang, Yuxin, Gong, Linglu, Li, Haibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753460/
https://www.ncbi.nlm.nih.gov/pubmed/35070841
http://dx.doi.org/10.21037/tp-21-560

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