Hormone research in paediatrics
Phenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.
Marcelo Yuji de Moura Yamanaka, Luciana R Montenegro, Ana Pinheiro Machado Canton, Aline Almeida Bastos, Larissa Baracho Macena, Vinicius Nahime Brito, Ana Claudia Latronico
Published: 202510.1159/000549607
Abstract
INTRODUCTION: Loss-of-function mutations in MKRN3, a maternally imprinted gene, represent the most common genetic defects associated with familial central precocious puberty (CPP) in both sexes. In recent years, the number of affected females with CP…
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