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

Internet

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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