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Identifying of 22q11.2 variations in Chinese patients with development delay

BACKGROUND: 22q11.2 variation is a significant genetic factor relating to development delay and/or intellectual disability. However, the prevalence, genetic characteristics and clinical phenotype in Chinese patients are unknown. METHODS: In total 6034 patients with development delay and/or intellect...

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Detalles Bibliográficos
Autores principales: Zhang, Yuanyuan, Liu, Xiaoliang, Gao, Haiming, He, Rong, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821542/
https://www.ncbi.nlm.nih.gov/pubmed/33482818
http://dx.doi.org/10.1186/s12920-020-00849-z