Show simple item record

dc.contributor.advisorKrieg, Paul A.en
dc.contributor.authorShy, Hannah Marie
dc.creatorShy, Hannah Marieen
dc.date.accessioned2016-06-09T22:55:35Z
dc.date.available2016-06-09T22:55:35Z
dc.date.issued2016
dc.identifier.urihttp://hdl.handle.net/10150/612432
dc.description.abstractMayer-Rokitansky-Kuster-Hauser Syndrome is a congenital disorder of the female reproductive tract due to impaired Müllerian duct development. There are three known categorical presentations: isolated, atypical, and MURCS association. Several developmentally significant factors including inappropriate AMH/AMHR interaction, and mutations in the WNT gene family and HOXA7-13 cluster have been studied. There has also been investigation into an autosomal dominant pattern of inheritance in families with multiple cases of the syndrome. Due to the presence of multiple subsets of patients with similar genetic abnormalities, it seems unlikely that a single etiology will be discovered.
dc.language.isoen_USen
dc.publisherThe University of Arizona.en
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en
dc.subjectMRKHen
dc.subjectMUC1 geneen
dc.subjectMullerian ducten
dc.subjectuterine aplasiaen
dc.subjectvaginal aplasiaen
dc.subjectMolecular & Cellular Biologyen
dc.subjectHOX genesen
dc.titleMayer-Rokitansky-Kuster-Hauser Syndromeen_US
dc.typetexten
dc.typeElectronic Thesisen
thesis.degree.grantorUniversity of Arizonaen
thesis.degree.levelmastersen
dc.contributor.committeememberLantz, Robert C.en
dc.contributor.committeememberRunyan, Raymond B.en
dc.contributor.committeememberElliott, David A.en
dc.contributor.committeememberDarnell, Diana K.en
thesis.degree.disciplineGraduate Collegeen
thesis.degree.disciplineMolecular & Cellular Biologyen
thesis.degree.nameM.S.en
refterms.dateFOA2018-09-11T12:21:55Z
html.description.abstractMayer-Rokitansky-Kuster-Hauser Syndrome is a congenital disorder of the female reproductive tract due to impaired Müllerian duct development. There are three known categorical presentations: isolated, atypical, and MURCS association. Several developmentally significant factors including inappropriate AMH/AMHR interaction, and mutations in the WNT gene family and HOXA7-13 cluster have been studied. There has also been investigation into an autosomal dominant pattern of inheritance in families with multiple cases of the syndrome. Due to the presence of multiple subsets of patients with similar genetic abnormalities, it seems unlikely that a single etiology will be discovered.


Files in this item

Thumbnail
Name:
azu_etd_14445_sip1_m.pdf
Size:
625.2Kb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record