Phenotype-genotype correlations in patients with GNRH deficiency

• Κύριος συγγραφέας: Στάμου, Μαρία
• Άλλοι συγγραφείς: Γεωργόπουλος, Νεοκλής
• Μορφή: Thesis
• Γλώσσα: English
• Έκδοση: 2019
• Θέματα: GNRH; Genetics; Whole exome sequencing; Έλλειψη της GNRH; Γενετικές διαταραχές; 616.47

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 a genetically enriched disease with >35 genes being implicated in its pathoph...