A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).
Concolino
Paola
P
Carrozza
Cinzia
C
Minucci
Angelo
A
Santonocito
Concetta
C
Ameglio
Franco
F
Zuppi
Cecilia
C
Capoluongo
Ettore
E
D000328:Adult; D005260:Female; D006579:Heterozygote; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D012694:Serine; D011392:Proline; D013255:Steroid 21-Hydroxylase