Homozygous p.Arg227Gln mutation with isolated micropenis is the major presentation of 5α-reductase type 2 deficiency in Taiwan
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Background: The diagnosis of 5α-reductase type 2 deficiency (5α-RD2) is suspected on clinical grounds, typically at birth or during puberty, including pre-pubertal males showing undervirilization and females who virilize at pub... ...
