NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disabili...

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Detalles Bibliográficos
Autores principales: Hu, Chun-Chun, Sun, Yun-Jun, Liu, Chun-xue, Zhou, Bing-rui, Li, Chun-yang, Xu, Qiong, Xu, Xiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208182/
https://www.ncbi.nlm.nih.gov/pubmed/30376821
http://dx.doi.org/10.1186/s12881-018-0705-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208182/
https://www.ncbi.nlm.nih.gov/pubmed/30376821
http://dx.doi.org/10.1186/s12881-018-0705-7

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