Open AccessMON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3
Author(s) -
Carlos Eduardo Seraphim,
Ana Cantón,
Luciana Ribeiro Montenegro,
Maiara Ribeiro Piovesan,
Marina Cunha-Silva,
Delanie B Macedo,
Aline Guimarães,
Carolina Ramos,
Priscila Gagliardi,
Ana Paula Abreu,
Ursula B. Kaiser,
Berenice Bilharinho Mendonça,
Vinícius Nahime Brito,
Ana Claudia Latrônico
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-mon-251
Subject(s) - frameshift mutation , missense mutation , medicine , bone age , genetics , pediatrics , context (archaeology) , cohort , adrenarche , precocious puberty , nonsense mutation , endocrinology , mutation , biology , gene , hormone , paleontology