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A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in...
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| Publicado no: | Ann Saudi Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
King Faisal Specialist Hospital and Research Centre
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6074201/ https://ncbi.nlm.nih.gov/pubmed/27920410 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2016.391 |
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