1q21.1 microduplication in a patient with mental impairment and congenital heart defect

1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple...

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Detalles Bibliográficos
Autores principales: SUN, GUOWEN, TAN, ZHIPING, FAN, LIANGLIANG, WANG, JIAN, YANG, YIFENG, ZHANG, WEIZHI
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581767/
https://www.ncbi.nlm.nih.gov/pubmed/26238956
http://dx.doi.org/10.3892/mmr.2015.4166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581767/
https://www.ncbi.nlm.nih.gov/pubmed/26238956
http://dx.doi.org/10.3892/mmr.2015.4166

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