34 kb tight linkage disequilibrium (LD) block within ESR1 is strongly associated with cryptorc"/>
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Microdeletion at ESR1 Intron 6 (DEL_6_75504) is a Susceptibility Factor for Cryptorchidism and Hypospadias.

Yohei Masunaga,Yasuko Fujisawa,Francesco Massart,Claudio Spinelli,Yoshiyuki Kojima,Kentaro Mizuno,Yutaro Hayashi,Isoji Sasagawa,Rie Yoshida,Fumiko Kato,Maki Fukami,Naoyuki Kamatani,Hirotomo Saitsu,Tsutomu Ogata

The Journal of Clinical Endocrinology & Metabolism（2023）

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Key words
ESR1,microdeletion,cryptorchidism,hypospadias,absolute linkage disequilibrium,gene expression
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