Short stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous mutation in the NPR2 gene.
Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA
タイトル
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
