Familial central precocious puberty: two novel MKRN3 mutations

Volume: 90, Issue: 2, Pages: 431 - 435
Published: Nov 19, 2020
Abstract
Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two independent families.The single coding exon of MKRN3 was analyzed in three patients with CPP and their family members, followed by segregation analyses. Additionally, we report the patients' responses to GnRH analog treatment.A paternally...
Paper Details
Title
Familial central precocious puberty: two novel MKRN3 mutations
Published Date
Nov 19, 2020
Volume
90
Issue
2
Pages
431 - 435
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