Open AccessIGHD II: A NovelGH-1Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion
Author(s) -
Maria Consolata Miletta,
Andrée Eblé,
Marco Janner,
Shaheena Parween,
Amit V. Pandey,
Christa E. Flück,
PrimusE. Mullis
Publication year - 2015
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2015-3265
Subject(s) - ighd , short stature , medicine , endocrinology , biology , mutant , mutation , dwarfism , missense mutation , microbiology and biotechnology , gene , genetics , growth hormone deficiency , hormone , growth hormone
The autosomal dominant form of GH deficiency (IGHD II) is characterized by markedly reduced GH secretion combined with low concentrations of IGF-1 leading to short stature.
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