Open AccessSUN-264 Mutations in the Maternally Imprinted Genes, MKRN3 and DLK1, Associated with Central Precocious Puberty
Author(s) -
Ana Paula Abreu,
Leonardo Garcia,
Sidney Alcântara Pereira,
Delanie B Macedo,
Melissa Magnusson,
Priscila Gagliardi,
Filiz Tütüncüler,
Keisha Bird,
Adriana LofranoPorto,
Stephanie Roberts,
Rona S. Carroll,
Ana Claudia Latrônico,
Ursula B. Kaiser
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-sun-264
Subject(s) - genetics , proband , missense mutation , biology , genomic imprinting , sanger sequencing , exon , precocious puberty , multiplex ligation dependent probe amplification , frameshift mutation , gene , mutation , endocrinology , dna methylation , gene expression , hormone