Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
CE Seraphim, APM Canton… - The Journal of …, 2021 - academic.oup.com
Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most
common monogenic cause of familial central precocious puberty (CPP). Objective To …
common monogenic cause of familial central precocious puberty (CPP). Objective To …
Two frameshift mutations in MKRN3 in Turkish patients with familial central precocious puberty
Background: Little is known about the genetic causes responsible for idiopathic central
precocious puberty (iCPP). More recently, described loss-of-function mutations in the …
precocious puberty (iCPP). More recently, described loss-of-function mutations in the …
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3
Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene
located on the long arm of chromosome 15, have been recognized recently as a cause of …
located on the long arm of chromosome 15, have been recognized recently as a cause of …
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty
D Simon, I Ba, N Mekhail, E Ecosse… - European Journal of …, 2016 - academic.oup.com
Context and objective Idiopathic central precocious puberty (iCPP) is defined as early
activation of the hypothalamic–pituitary–gonadal axis in the absence of identifiable central …
activation of the hypothalamic–pituitary–gonadal axis in the absence of identifiable central …
[HTML][HTML] A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene
A Grandone, G Cantelmi, G Cirillo, P Marzuillo… - BMC endocrine …, 2015 - Springer
Background Central precocious puberty (CPP) is often familial but its genetic cause is
largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located …
largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located …
MKRN3 Mutations in Familial Central Precocious Puberty
F Schreiner, B Gohlke, M Hamm, E Korsch… - Hormone research in …, 2014 - karger.com
Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3)
have recently been reported to underlie familial cases of central precocious puberty (CPP) …
have recently been reported to underlie familial cases of central precocious puberty (CPP) …
MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study
A Grandone, G Cirillo, M Sasso, C Capristo, G Tornese… - Endocrine, 2018 - Springer
Purpose Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been
described in familial central precocious puberty. Serum levels of this protein decline before …
described in familial central precocious puberty. Serum levels of this protein decline before …
MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis
LP Valadares, CG Meireles… - Journal of the …, 2019 - academic.oup.com
MKRN3 mutations represent the most common genetic cause of central precocious puberty
(CPP) but associations between genotype and clinical features have not been extensively …
(CPP) but associations between genotype and clinical features have not been extensively …
[PDF][PDF] Investigation of MKRN3 mutation in patients with familial central precocious puberty
Z Aycan, Ş Savaş-Erdeve, S Çetinkaya… - Journal of Clinical …, 2018 - jag.journalagent.com
Objective: There have been recent advances in the understanding of the etiology of
idiopathic central precocious puberty (iCPP) including new genetic associations. The aim of …
idiopathic central precocious puberty (iCPP) including new genetic associations. The aim of …
Central Precocious Puberty in a Girl and Early Puberty in Her Brother Caused by a Novel Mutation in the MKRN3 Gene
N Settas, C Dacou-Voutetakis… - The Journal of …, 2014 - academic.oup.com
Context: Central precocious puberty (CPP), defined as the development of secondary sex
characteristics prior to age 8 years in girls and 9 years in boys, results from the premature …
characteristics prior to age 8 years in girls and 9 years in boys, results from the premature …