Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene.

Autor: Özen, Samim1, Atik, Tahir2 tahiratik@yahoo.com, Korkmaz, Özlem1, Onay, Hüseyin3, Gökşen, Damla1, Özkınay, Ferda2,3, Çoğulu, Özgür2, Darcan, Şükran1
Zdroj: Journal of Clinical Research in Pediatric Endocrinology. Mar2020, Vol. 12 Issue 1, p109-112. 4p.
Databáze: Academic Search Ultimate