Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature

Author(s):
Harmel, E.M.; Binder, G.; Barnikol-Oettler, A.; Caliebe, J.; Kiess, W.; Losekoot, M.; Ranke, M.B.; Rappold, G.A.; Schlicke, M.; Stobbe, H.; Wit, J.M.; Pfaffle, R.; Klammt, J.
Published
2013
Publication type
Article / Letter to editor
Short statureInsulin-like growth factor receptor type 1MutationInsulin-like growth factor resistanceNonsense-mediated mRNA decayShort stature homeobox gene
Date issued
2013-12-31
Language
English
Is part of
Hormone Research in Paediatrics (2013), Vol. 80, no. 6, p. 431-442
hdl
1887/102510
doi
10.1159/000355410