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

Hussein Daoud, Martine Tétreault, William Gibson, Kether Guerrero, Ana Cohen, Janina Gburek-Augustat, Matthis Synofzik, Bernard Brais, Cathy A. Stevens, Rocio Sanchez-Carpintero, Cyril Goizet, Sakkubai Naidu, Adeline Vanderver, Geneviève Bernard

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Medicine & Life Sciences