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Hypospadias is a common congenital malformation of the male external genitalia with a multifactorial etiology. Little is known about the genes involved in hypospadias. A few genetic associations have been reported but mainly in studies of small sample size. Most of these associations have not been replicated.

the journal of clinical endocrinology and metabolism

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms inSRD5A2,ESR1,ESR2, andATF3Really Associated with the Malformation?