Open AccessSUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
Author(s) -
Marilekaguma,
Fernanda A. Correa,
Lucas Santos de Santana,
A. Benedetti,
Rocío Silva Pérez,
Martha Katherine Paniagua Huayllas,
Mirta Miras,
Mariana Ferreira de Assis Funari,
Lerario M. Antonio,
Berenice Mendonça,
Luciani Carvalho,
Alexander A. L. Jorge,
Ivo Jorge Prado Arnhold
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-034
Subject(s) - ighd , missense mutation , genetics , exome sequencing , compound heterozygosity , biology , genetic testing , genetic counseling , gene , exome , mutation , medicine , growth hormone deficiency , bioinformatics , endocrinology , growth hormone , hormone