Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.

Autor: Panzer, Karin1, Ekhaguere, Osayame A.2 ekhaguereo@email.chop.edu, Darbro, Benjamin1, Cook, Jennifer3, Shchelochkov, Oleg A.1
Zdroj: Journal of Clinical Research in Pediatric Endocrinology. Mar2017, Vol. 9 Issue 1, p70-73. 4p.
Databáze: Academic Search Ultimate