Whole-exome sequencing identified a TBX6 loss-of-function mutation in a patient with distal vaginal atresia.

Journal of Pediatric and Adolescent Gynecology（2019）

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摘要

We demonstrated for the first time that the mutation in TBX6 may be associated with human distal vaginal atresia.

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关键词

Distal vaginal atresia,TBX6,Whole-exome sequencing,Female genital tract,Lower vaginal atresia

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