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PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child
Hypomyelinating leukodystrophy (HLD) represents a group of clinically overlapping but genetically heterogeneous diseases. This group of disorders has the improper formation of myelin sheaths in the central nervous system (CNS), resulting in abnormal white matter, with characteristic MRI findings and...
Autores principales: | Srivastava, Preeti, Mishra, Asit Kumar, Sarkar, Nilanjan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143271/ https://www.ncbi.nlm.nih.gov/pubmed/34055512 http://dx.doi.org/10.7759/cureus.14661 |
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