{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T06:58:28Z","timestamp":1791615508488,"version":"4.3.4"},"reference-count":99,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T00:00:00Z","timestamp":1479254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>\n                    Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    ) syndrome, also referred to as M\u00fcllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,\n                    <jats:styled-content style=\"fixed-case\">XX<\/jats:styled-content>\n                    females.\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    syndrome has an incidence of about 1 in 4,500\u20135,000 newborn females and it is generally divided into two subtypes:\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    type 1, in which only the upper vagina, cervix and the uterus are affected, and\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes\n                    <jats:styled-content style=\"fixed-case\">MURCS<\/jats:styled-content>\n                    (\n                    <jats:styled-content style=\"fixed-case\">M\u00dcllerian<\/jats:styled-content>\n                    Renal Cervical Somite) characterized by cervico\u2010thoracic defects.\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    syndrome is mainly sporadic; however, familial cases have been described indicating that, at least in a subset of patients,\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    may be an inherited disorder. The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. The etiology of\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    syndrome is still largely unknown, probably because of its intrinsic heterogeneity. Several candidate causative genes have been investigated, but to date only\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">WNT4<\/jats:styled-content>\n                    <\/jats:italic>\n                    has been associated with\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    with hyperandrogenism. This review summarizes and discusses the clinical features and details progress to date in understanding the genetics of\n                    <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>\n                    syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.12883","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T01:40:13Z","timestamp":1476322813000},"page":"233-246","source":"Crossref","is-referenced-by-count":160,"title":["Genetics of Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (\n                    <scp>MRKH<\/scp>\n                    ) syndrome"],"prefix":"10.1111","volume":"91","author":[{"given":"L.","family":"Fontana","sequence":"first","affiliation":[{"name":"Department of Pathophysiology &amp; Transplantation Universit\u00e0 degli Studi di Milano  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Gentilin","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Fedele","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Universit\u00e0 degli Studi di Milano  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Health Sciences Universit\u00e0 degli Studi di Milano  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6523-4575","authenticated-orcid":false,"given":"M.","family":"Miozzo","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology &amp; 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