ra0001p250 | (1) | WCRB2014
Yue Huanxun
, Sun Dan
, Sun Huaqin
, Xu Wenming
Introduction: Dysplasia of the fibrous sheath (DFS) and stump-tail sperm is a rare sperm abnormality often associated with parental consanguinity and found to be associated with recessive mode. However, the molecular pathogenesis remain elusive.Material and methods: Whole-exome sequencing was performed in a typical pedygree with two affected brother. Multiple-tissue real time PCR was used to check the expression of QRICH2 in human multiple tissues. Sperm...