Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive form of leukodystrophy caused by homozygous or compound heterozygous mutations of the RNA polymerase III subunit genes, including subunit A (POLR3A). With respect to the manifestation triad, hypomyelination, hypodontia, and...

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Detalles Bibliográficos
Autores principales: Furukawa, Soma, Kunii, Misako, Doi, Hiroshi, Kondo, Naohide, Ogura, Aya, Hirabuki, Koichi, Itoh, Takayuki, Matsumoto, Naomichi, Tanaka, Fumiaki, Katsuno, Masahisa, Ito, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952608/
https://www.ncbi.nlm.nih.gov/pubmed/33716926
http://dx.doi.org/10.3389/fneur.2021.622355

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