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Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
BACKGROUND: Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. CASE PRESENTATION: In this study, we reported on two male siblings, aged 4 and 2 y...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7017536/ https://ncbi.nlm.nih.gov/pubmed/32050918 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0957-x |
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