Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 ge...

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Detalles Bibliográficos
Autores principales: Shariati, Gholamreza, Hamid, Mohammad, Saberi, Alihossein, Andashti, Behnaz, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352366/
https://www.ncbi.nlm.nih.gov/pubmed/25767710
http://dx.doi.org/10.1002/ccr3.168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352366/
https://www.ncbi.nlm.nih.gov/pubmed/25767710
http://dx.doi.org/10.1002/ccr3.168

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