Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of , , and in three families and a variant of in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160444 | PMC |
| http://dx.doi.org/10.1038/s41439-018-0028-4 | DOI Listing |
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