Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.
Hum Genome Var
; 5: 27, 2018.
Article
en En
| MEDLINE
| ID: mdl-30302266
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.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Hum Genome Var
Año:
2018
Tipo del documento:
Article