Ontology highlight
ABSTRACT:
SUBMITTER: Macedo DB
PROVIDER: S-EPMC4037732 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Macedo Delanie B DB Abreu Ana Paula AP Reis Ana Claudia S AC Montenegro Luciana R LR Dauber Andrew A Beneduzzi Daiane D Cukier Priscilla P Silveira Leticia F G LF Teles Milena G MG Carroll Rona S RS Junior Gil Guerra GG Filho Guilherme Guaragna GG Gucev Zoran Z Arnhold Ivo J P IJ de Castro Margaret M Moreira Ayrton C AC Martinelli Carlos Eduardo CE Hirschhorn Joel N JN Mendonca Berenice B BB Brito Vinicius N VN Antonini Sonir R SR Kaiser Ursula B UB Latronico Ana Claudia AC
The Journal of clinical endocrinology and metabolism 20140314 6
<h4>Context</h4>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 familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion.<h4>Objectives</h4>The objective of the study was to investigate potential MKRN3 sequence variations as well as copy number and methylation abnormalities of the 15q11 locus in patients with apparently sporadi ...[more]