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A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

BACKGROUND: Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese family affected by ID. CASE PRESENTATION: Th...

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Detalles Bibliográficos
Autores principales:	Xi, Hui, Peng, Ying, Xie, Wanqin, Pang, Jialun, Ma, Na, Yang, Shuting, Peng, Jinping, Wang, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273683/ https://www.ncbi.nlm.nih.gov/pubmed/32518592 http://dx.doi.org/10.1186/s13039-020-00483-5

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