Kant, S.G.

patient mutation deletion igf 1r gene igf 1r igf-i control growth protein retardation tcf 4 genet g 358v mutation breathing anomalies syndrome anomaly study missense mutation missense department analysis genetic factor fibroblast group.bmj.com letter phenotype metab receptor domain haploinsufficiency endocrinol probe igf 1r haploinsufficiency novel pkb /akt expression tcf 4 gene month binding breathing position gh treatment feature pitt-hopkins syndrome growth retardation exon 14 zweier height article aggregation tendency aggregation terminal bhlh domain transcript tcf 4 mutations j med genet friedrich-alexander university erlangen-nuremberg igf 1r mrna postnatal growth retardation result university crease head circumference 117 patients interaction jmg.bmj.com hospital seizure downloaded effect igf-i resistance group.bmj.com insulin-like letter transcription chromosome 4/4 spectrum myopia frameshift