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Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study

Hypomyelinating leukodystrophies are a heterogeneous group of inherited white matter disorders characterized by a predominant absence of myelin deposits in the central nervous system. CASE PRESENTATION: The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loo...

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Detalles Bibliográficos
Autores principales:	Hosseini, Seyed Ahmad, Ghelichi-Ghojogh, Mousa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205227/ https://www.ncbi.nlm.nih.gov/pubmed/37228935 http://dx.doi.org/10.1097/MS9.0000000000000684

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