Phenotypic Spectrum of POLR3B Mutations: Isolated Hypogonadotropic Hypogonadism Without Neurological or Dental Anomalies

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Richards MR, Plummer L, Chan Y-M, Lippincott MF, Quinton R, Kumanov P

J Med Genet 54 (1), 19-25. 2016

DOI: 10.1136/jmedgenet-2016-104064