In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 5, No. 1 ( 2018-09-27)
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.
Type of Medium:
Online Resource
ISSN:
2054-345X
DOI:
10.1038/s41439-018-0028-4
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2018
detail.hit.zdb_id:
2863697-1
