Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome-Reference-Cited by-同舟云学术

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Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome

Published:2024-08 Issue: Volume:589 Page:112224
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Poch Alexandra^ORCID,Dougherty Michael P.,Roman Robert A.,Chorich Lynn^ORCID,Hawkins Zoe^ORCID,Kim Soo-Hyun^ORCID,Kim Hyung-Goo,Layman Lawrence C.

Funder

National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Elsevier BV

Reference29 articles.

1. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism;Bhagavath;Fertil. Steril.,2005

2. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism;Bhagavath;Fertil. Steril.,2006

3. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans;Bhagavath;Mol. Hum. Reprod.,2007

4. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment;Boehm;Nat. Rev. Endocrinol.,2015

5. Nasal Placode development, GnRH Neuronal migration and Kallmann syndrome;Cho;Front. Cell Dev. Biol.,2019

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