Leukoencephalopathy with vanishing white matter disease: a case report study.

Atefe Kami,Alale Langari,Mohammad H Gharib,Mousa Ghelichi-Ghojogh, Parmis S Hosseini,Seyed A Hosseini

Annals of medicine and surgery (2012)（2023）

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摘要

As a conclusion, genetic counseling could be recommended to all individuals with VWM disease and their family members for next pregnancies and possible precautions for consanguineous marriages.

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关键词

exome sequencing, magnetic resonance imaging, point mutation

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