https://www.selleckchem.com/products/Y-27632.html
Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar3 coding gene . Almost 20 patients have been reported to date, with significant phenotypic variability. We describe a boy with a homozygous deletion (exons 5-9) in the gene, who presents novel clinical aspects not reported previously. In addition to neonatal diabetes, congenital hypothyroidism and other known multi-organ manifestations such as cholestasis and renal cysts, he suffer
Like
Comment
Share
