Article
IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
Hormone research in paediatrics - 1 Jan 2012
Caliebe Janina, Broekman Sander, Boogaard Merel, Bosch Cathy A J, Ruivenkamp Claudia A L, Oostdijk Wilma, Kant S G, Binder Gerhard, Ranke Michael B, Wit Jan M, Losekoot Monique
Abstract excerpt
BACKGROUND/AIMS: Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). METHODS: After selection with a modified scoring system for SHOX and a novel score for IGF1 and IGF1R defects, direct sequencing and multiplex ligation-dependent probe...
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