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Van der Knaap disease: a rare disease with atypical features

Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare autosomal recessive disorder. It is characterised by macrocephaly that either presents at birth or develops during infancy. It occurs more commonly in some ethnicities where consanguinity is common,...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Roy, Ujjawal, Joshi, Bhushan, Ganguly, Goutam
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4513453/
https://ncbi.nlm.nih.gov/pubmed/26206779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-209831
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