Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients

Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non-reproductive clinical characteristics. Apart from the phenotypic heterogeneity, IGD is also highly genetically heterogeneous with >35 genes implicated in the disease. Despit...

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Hlavní autoři:	M I Stamou, P Varnavas, L Plummer, V Koika, N A Georgopoulos
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Bioscientifica 2019-04-01
Edice:	Endocrine Connections
Témata:	GnRH genetics whole exome sequencing Kallmann hypogonadism
On-line přístup:	https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0010.xml
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