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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Detalles Bibliográficos
Autores principales: Verberne, Eline A., Dalen Meurs, Lotje, Wolf, Nicole I., van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318643/
https://www.ncbi.nlm.nih.gov/pubmed/32319736
http://dx.doi.org/10.1002/ajmg.a.61600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318643/
https://www.ncbi.nlm.nih.gov/pubmed/32319736
http://dx.doi.org/10.1002/ajmg.a.61600

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