Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference26 articles.
1. Molecular causes of hypogonadotropic hypogonadism;Topaloglu;Curr Opin Obstet Gynecol,2010
2. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism;Bianco;Nat Rev Endocrinol,2009
3. Kallmann syndrome: from genetics to neuro-biology;Rugarli;JAMA,1993
4. The genetic aspects of primary eunuchoidism;Kallmann;Am J Ment Defic,1944
5. New understandings of the genetic basis of isolated idiopathic central hypogonadism;Bonomi;Asian J Androl,2012
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