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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Publicat a:Ann Saudi Med
Autors principals: Hashmi, Jamil A., Al-Harbi, Khalid M., Ramzan, Khushnooda, Albalawi, Alia M., Mehmood, Amir, Samman, Mohammed I., Basit, Sulman
Format: Artigo
Idioma:Inglês
Publicat: King Faisal Specialist Hospital and Research Centre 2016
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Original Article
Accés en línia: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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