Mayer-Rokitansky-Kuster-Hauser Syndrome
dc.contributor.advisor | Krieg, Paul A. | en |
dc.contributor.author | Shy, Hannah Marie | |
dc.creator | Shy, Hannah Marie | en |
dc.date.accessioned | 2016-06-09T22:55:35Z | |
dc.date.available | 2016-06-09T22:55:35Z | |
dc.date.issued | 2016 | |
dc.identifier.uri | http://hdl.handle.net/10150/612432 | |
dc.description.abstract | Mayer-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.iso | en_US | en |
dc.publisher | The University of Arizona. | en |
dc.rights | Copyright © 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.subject | MRKH | en |
dc.subject | MUC1 gene | en |
dc.subject | Mullerian duct | en |
dc.subject | uterine aplasia | en |
dc.subject | vaginal aplasia | en |
dc.subject | Molecular & Cellular Biology | en |
dc.subject | HOX genes | en |
dc.title | Mayer-Rokitansky-Kuster-Hauser Syndrome | en_US |
dc.type | text | en |
dc.type | Electronic Thesis | en |
thesis.degree.grantor | University of Arizona | en |
thesis.degree.level | masters | en |
dc.contributor.committeemember | Lantz, Robert C. | en |
dc.contributor.committeemember | Runyan, Raymond B. | en |
dc.contributor.committeemember | Elliott, David A. | en |
dc.contributor.committeemember | Darnell, Diana K. | en |
thesis.degree.discipline | Graduate College | en |
thesis.degree.discipline | Molecular & Cellular Biology | en |
thesis.degree.name | M.S. | en |
refterms.dateFOA | 2018-09-11T12:21:55Z | |
html.description.abstract | Mayer-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. |