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...

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Detalles Bibliográficos
Autores principales: Srivastava, Preeti, Mishra, Asit Kumar, Sarkar, Nilanjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
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

Internet

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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