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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… Click to show full abstract
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 MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome.
Keywords:
ster hauser;
variation;
mayer rokitansky;
rokitansky ster
Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!