Open AccessSAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature With Noonan-like Facies
Author(s) -
Youn Hee Jee,
Philip Whalen,
Shanna Yue,
Ellen Werber Leschek,
Thomas C. Markello,
Kevin M. Barnes,
Julian C. Lui,
Jeffrey Baron
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-sat-283
Subject(s) - endosome , hek 293 cells , mutation , biology , transfection , sanger sequencing , missense mutation , receptor , short stature , endocytosis , microbiology and biotechnology , genetics , endocrinology , cell culture , gene