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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Shariati, Gholamreza, Hamid, Mohammad, Saberi, Alihossein, Andashti, Behnaz, Galehdari, Hamid
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2015
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352366/
https://ncbi.nlm.nih.gov/pubmed/25767710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.168
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker