Open AccessSUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
Author(s) -
Nora Sanguineti,
Paula Scaglia,
Débora Braslavsky,
Ana Keselman,
Marı́a Gabriela Ballerini,
María Gabriela Ropelato,
Sofía Suco,
Jacob O. Kitzman,
Sebastián Vishnopolska,
Marcelo A. Martí,
Horacio M. Domené,
Rodolfo Rey,
María Inés Pérez-Millán,
Sally A. Camper,
Ignacio Bergadá
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-sun-245
Subject(s) - ighd , short stature , missense mutation , endocrinology , hypopituitarism , dwarfism , growth hormone deficiency , medicine , biology , genetics , sanger sequencing , mutation , gene , growth hormone , hormone