A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.
Johanna KänsäkoskiTaneli RaivioAnders JuulJohanna TommiskaPublished in: Pediatric research (2015)
Our results are in line with previous studies in which paternally inherited MKRN3 mutations have been found both in males and in females with ICPP or early puberty. Our report further expands the set of MKRN3 mutations identified in ICPP patients across diverse populations, thus supporting the major regulatory function of MKRN3 in pubertal onset.