{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:38:19Z","timestamp":1790473099898,"version":"4.1.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpagonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Pediatric and Adolescent Gynecology"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.jpag.2017.09.004","type":"journal-article","created":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T17:00:18Z","timestamp":1505408418000},"page":"158-161","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["M\u00fcllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review"],"prefix":"10.1016","volume":"31","author":[{"given":"Abdulmajeed","family":"AlSubaihin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"VanderMeulen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Duck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"McCready","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpag.2017.09.004_bib1","doi-asserted-by":"crossref","first-page":"2384","DOI":"10.1093\/humrep\/dew220","article-title":"Prevalence and patient characteristics of Mayer-Rokitansky-Kuster-Hauser syndrome: a nationwide registry-based study","volume":"31","author":"Herlin","year":"2016","journal-title":"Hum Reprod"},{"key":"10.1016\/j.jpag.2017.09.004_bib2","doi-asserted-by":"crossref","first-page":"224","DOI":"10.7326\/0003-4819-85-2-224","article-title":"Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"85","author":"Griffin","year":"1976","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jpag.2017.09.004_bib3","first-page":"192","article-title":"The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated features: two separate entities?","volume":"3","author":"Strubbe","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.jpag.2017.09.004_bib4","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1002\/ajmg.a.36652","article-title":"Familial occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report and review of the literature","volume":"164A","author":"Herlin","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpag.2017.09.004_bib5","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/cge.12883","article-title":"Genetics of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome","volume":"91","author":"Fontana","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib6","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1136\/jmg.2010.082412","article-title":"High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia","volume":"48","author":"Nik-Zainal","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib7","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-6-9","article-title":"Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci","volume":"6","author":"Morcel","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpag.2017.09.004_bib8","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1016\/j.fertnstert.2010.07.1062","article-title":"Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"95","author":"Ledig","year":"2011","journal-title":"Fertil Steril"},{"key":"10.1016\/j.jpag.2017.09.004_bib9","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmg.2007.051839","article-title":"Genomic imbalances associated with Mullerian aplasia","volume":"45","author":"Cheroki","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib10","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1002\/ajmg.a.31736","article-title":"Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome","volume":"143A","author":"Sundaram","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpag.2017.09.004_bib11","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1097\/MCD.0b013e3282ef97ee","article-title":"Expanding the phenotype of 22q11 deletion syndrome: the MURCS association","volume":"17","author":"Uliana","year":"2008","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.jpag.2017.09.004_bib12","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/BF00282012","article-title":"The \u201ccat eye syndrome\u201d: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture","volume":"57","author":"Schinzel","year":"1981","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib13","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1038\/sj.ejhg.5201473","article-title":"Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies","volume":"13","author":"Bartsch","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib14","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature","volume":"12","author":"Rosias","year":"2001","journal-title":"Genet Couns"},{"key":"10.1016\/j.jpag.2017.09.004_bib15","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000015035","article-title":"Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints","volume":"81","author":"McTaggart","year":"1998","journal-title":"Cytogenet Cell Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib16","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R","article-title":"A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes","volume":"72","author":"Crolla","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib17","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1136\/jmg.40.5.e62","article-title":"Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome","volume":"40","author":"Meins","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpag.2017.09.004_bib18","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.mce.2003.09.012","article-title":"AMH signaling: from receptor to target gene","volume":"211","author":"Visser","year":"2003","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.jpag.2017.09.004_bib19","doi-asserted-by":"crossref","first-page":"7527","DOI":"10.1038\/ncomms8527","article-title":"Bcl-2-like protein 13 is a mammalian Atg32 homologue that mediates mitophagy and mitochondrial fragmentation","volume":"6","author":"Murakawa","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.jpag.2017.09.004_bib20","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1126\/science.1059108","article-title":"Proapoptotic BAX and BAK: a requisite gateway to mitochondrial dysfunction and death","volume":"292","author":"Wei","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.jpag.2017.09.004_bib21","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0092-8674(00)81589-5","article-title":"Bid, a Bcl2 interacting protein, mediates cytochrome c release from mitochondria in response to activation of cell surface death receptors","volume":"94","author":"Luo","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.jpag.2017.09.004_bib22","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1126\/science.281.5381.1322","article-title":"The Bcl-2 protein family: arbiters of cell survival","volume":"281","author":"Adams","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.jpag.2017.09.004_bib23","first-page":"1601","article-title":"Apoptosis during an early stage of nephrogenesis induces renal hypoplasia in bcl-2-deficient mice","volume":"148","author":"Nagata","year":"1996","journal-title":"Am J Pathol"}],"container-title":["Journal of Pediatric and Adolescent Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S108331881730459X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S108331881730459X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T13:44:59Z","timestamp":1761054299000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S108331881730459X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S108331881730459X"],"URL":"https:\/\/doi.org\/10.1016\/j.jpag.2017.09.004","relation":{},"ISSN":["1083-3188"],"issn-type":[{"value":"1083-3188","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"M\u00fcllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review","name":"articletitle","label":"Article Title"},{"value":"Journal of Pediatric and Adolescent Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpag.2017.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}