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4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype
4H leukodystrophy, also known as Pol III‐related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7318643/ https://ncbi.nlm.nih.gov/pubmed/32319736 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61600 |
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