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Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways