Chargement en cours...
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...
Enregistré dans:
| Publié dans: | Am J Med Genet A |
|---|---|
| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley & Sons, Inc.
2020
|
| Sujets: | |
| Accès en ligne: | 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 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|