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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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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6208182/ https://ncbi.nlm.nih.gov/pubmed/30376821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0705-7 |
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