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Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Autores: Tétreault, M.; Gibson, W.; Guerrero, K.; Cohen, A.; Gburek-Augustat, J.; Synofzik, M.; Brais, B.; Stevens, C.A.; Sánchez-Carpintero Abad, Rocío; Goizet, C.; Naidu, S.; Vanderver, A.; Bernad, G.
Título de la revista: JOURNAL OF MEDICAL GENETICS
ISSN: 0022-2593
Volumen: 50
Número: 3
Páginas: 194-197
Fecha de publicación: 2013
Resumen:
To date, our group has described 37 patients, of whom 27 have mutations in POLR3A and 10 in POLR3B, respectively. Altogether, our results further support the proposal that POLR3A and POLR3B mutations are a major cause of hypomyelinating leukodystrophies and suggest that POLR3A mutations are more frequent.
DOI: https://doi.org/10.1136/jmedgenet-2012-101357
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