Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister

4H leukodystrophy, one of POLR3-related leukodystrophy, is a rare hereditary brain white matter disease caused by the pathogenic biallelic variations in POLR3A, POLR3B, or POLR1C. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy. P...

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Detalles Bibliográficos
Autores principales: Bai, Hengzhou, Li, Dingming, Zheng, Yi, Jiang, XiaoHui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410618/
https://www.ncbi.nlm.nih.gov/pubmed/36042647
http://dx.doi.org/10.1097/MD.0000000000030350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410618/
https://www.ncbi.nlm.nih.gov/pubmed/36042647
http://dx.doi.org/10.1097/MD.0000000000030350

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