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 A. Rey,
María Inés PérezMillán,
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
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom