Somatomedin C deficiency in Asian sisters.
Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.
D002352:Carrier Proteins / Q000097:blood; D002675:Child, Preschool; D004392:Dwarfism / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D018969:Insulin-Like Growth Factor Binding Proteins; D007334:Insulin-Like Growth Factor I / Q000172:deficiency*; D013002:Somatomedins / Q000172:deficiency*
D002352:Carrier Proteins; D018969:Insulin-Like Growth Factor Binding Proteins; D013002:Somatomedins; D007334:Insulin-Like Growth Factor I