The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Duarte Pignatelli1,2,3, Berta Carvalho4,5, Aida Palmeiro6, Alberto Barros4,5, Susana G. Guerreiro1,3, Djuro Macut7
1Department of Biomedicine, Faculty of Medicine of Porto, Porto, Portugal
2Hospital S. João, Porto, Portugal
3IPATIMUP/I3S Research Institute, University of Porto, Porto, Portugal
4Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal
5I3S Research Institute, University of Porto, Porto, Portugal
6Clinical Genetics Center, Porto, Portugal
7Clinic of Endocrinology, Diabetes and Metabolic Diseases, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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