Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies-Reference-Cited by-同舟云学术

Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

Published:2016-08-10 Issue:1 Volume:54 Page:19-25
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Richards Mary R,Plummer Lacey,Chan Yee-Ming,Lippincott Margaret F,Quinton Richard,Kumanov Philip,Seminara Stephanie B

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: clinical and laboratory correlations;Spratt;J Clin Endocrinol Metab,1987

2. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations;Seminara;J Clin Endocrinol Metab,2000

3. Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network;Balasubramanian;Mol Cell Endocrinol,2011

4. A form of familial degeneration of the cerebellum;Holmes;Brain,1908

5. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination;Margolin;N Engl J Med,2013

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