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Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES). Trio-based WES was performed for 20 unresolved HL...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8310791/ https://www.ncbi.nlm.nih.gov/pubmed/33597727 http://dx.doi.org/10.1038/s10038-020-00896-5 |