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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| Materias: | |
| 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 |