Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report

4H leukodystrophy, one of the POLR3-related leukodystrophy, is a rare hereditary brain white matter disease with characteristic clinical presentation and imaging findings. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy. CASE PRES...

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Detalles Bibliográficos
Autores principales: Hamdan, Zulfiqar, Alasmar, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406027/
https://www.ncbi.nlm.nih.gov/pubmed/37554900
http://dx.doi.org/10.1097/MS9.0000000000001033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406027/
https://www.ncbi.nlm.nih.gov/pubmed/37554900
http://dx.doi.org/10.1097/MS9.0000000000001033

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