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

Eva-Maria Harmel,Gerhard Binder,Anja Barnikol-Oettler,Janina Caliebe,Wieland Kiess,Monique Losekoot,Michael B. Ranke,Gudrun Rappold,Marina Schlicke,Heike Stobbe,Jan M. Wit,Roland Pfäffle,Jürgen Klammt

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

2013

Eva-Maria Harmel
Gerhard Binder
Anja Barnikol-Oettler
Janina Caliebe
Wieland Kiess
Monique Losekoot
Michael B. Ranke
Gudrun Rappold
Marina Schlicke
Heike Stobbe
Jan M. Wit
Roland Pfäffle
Jürgen Klammt

Background: The insulin-like growth factor (IGF) receptor (IGF1R) is essential for normal development and growth. IGF1R mutations cause IGF-1 resistance resulting

Keywords:

Short stature homeobox gene
Internal medicine
Insulin-like growth factor 1 receptor
Growth factor
Endocrinology
Short stature
Genetics
Nonsense-mediated decay
Mutation
Haploinsufficiency
Medicine
Receptor

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