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Genotype-phenotype correlations
Original article
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
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Authors

  • Mary R Richards Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Lacey Plummer Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Yee-Ming Chan Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Margaret F Lippincott Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Richard Quinton Institute for Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK PubMed articlesGoogle scholar articles
  • Philip Kumanov Clinical Center of Endocrinology and Gerontology, Medical University of Sofia, Sofia, Bulgaria PubMed articlesGoogle scholar articles
  • Stephanie B Seminara Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Stephanie B Seminara, Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, 55 Fruit St., BHX 5, Boston, MA 02114, USA; sseminara{at}mgh.harvard.edu
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Citation

Richards MR, Plummer L, Chan Y, et al
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
Journal of Medical Genetics 2017;54:19-25.

Publication history

  • Received May 31, 2016
  • Accepted July 21, 2016
  • First published August 10, 2016.
Online issue publication 
January 06, 2017

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