Protein Variants | Comment | Organism |
---|---|---|
R192H | homozygous CYP19A1 mutation identified in two siblings of consanguineous parents. Mutation causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P11511 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
CYP19A1 | - |
Homo sapiens |