Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

We examined the PBX1 gene in 192 Chinese women with Mullerian duct abnormalities and revealed 2 known single nucleotide polymorphisms: c.61G＞A in exon 1 and c.998–1330A>G in intron 7. Future studies in large cohorts of different ethnic populations are warranted to establish definite associations between the PBX1 gene and Mullerian duct abnormalities.