Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty

• Hoofdauteurs: Francesca Aiello (Auteur), Grazia Cirillo (Auteur), Alessandra Cassio (Auteur), Raffaella Di Mase (Auteur), Gianluca Tornese (Auteur), Giuseppina R. Umano (Auteur), Emanuele Miraglia del Giudice (Auteur), Anna Grandone (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2021-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous gain of function mutation was described in a 3.5 years-old girl. No o...