A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5α-reductase deficiency

Biochemistry, Genetics and Molecular Biology

• Oxidoreductase 100%
• Reductase 100%
• SRD5A2 100%
• Enzyme 40%
• Virilization 40%
• Point Mutation 20%
• Infancy 20%
• Karyotype 46,XY 20%
• Codon 20%
• Enzyme Activity 20%
• Exon 20%
• Autosomal Recessive Disorder 20%
• Adolescence 20%

Medicine and Dentistry

• Virilization 50%
• Prematurity 25%
• Exon 25%
• Urogenital Sinus 25%
• Genetic Analysis 25%
• Adolescence 25%
• Autosomal Recessive Disorder 25%
• Karyotype 46,XY 25%
• Codon 25%