Petkovic, Vibor; Miletta, Maria Consolata; Boot, Annemieke M; Losekoot, Monique; Flück, Christa E; Pandey, Amit V; Eblé, Andrée; Wit, Jan Maarten; Mullis, Primus E (2013). Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. European journal of endocrinology, 168(3), K35-43. Bristol: BioScientifica Ltd. 10.1530/EJE-12-0847
Full text not available from this repository.Short stature caused by biologically inactive GH is clinically characterized by lack of GH action despite normal-high secretion of GH, pathologically low IGF1 concentrations and marked catch-up growth on GH replacement therapy.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders |
UniBE Contributor: |
Petkovic, Vibor, Miletta, Maria Consolata, Flück Pandey, Christa Emma, Pandey, Amit Vikram, Eblé, Andrée, Mullis, Primus-Eugen |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0804-4643 |
Publisher: |
BioScientifica Ltd. |
Language: |
English |
Submitter: |
Amit Vikram Pandey |
Date Deposited: |
04 Oct 2013 14:40 |
Last Modified: |
02 Mar 2023 23:21 |
Publisher DOI: |
10.1530/EJE-12-0847 |
PubMed ID: |
23417163 |
Web of Science ID: |
000316443000001 |
URI: |
https://boris.unibe.ch/id/eprint/16087 (FactScience: 223662) |
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