{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T04:39:56Z","timestamp":1694666396049},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T00:00:00Z","timestamp":1347840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Anterior pituitary aplasia (APA) is a very rare cause of congenital\u2010onset multiple pituitary hormone deficiency (CO\u2010MPHD). We report on molecular analysis and clinical follow\u2010up of three previously reported cases of APA [Scommegna et al., 2004], who share a characteristic physical and neuropsychological profile. Mutation analysis of genes encoding transcription factors involved in pituitary development (<jats:italic>PROP1<\/jats:italic>, <jats:italic>POUF1<\/jats:italic>, <jats:italic>HESX1<\/jats:italic>, <jats:italic>LHX3<\/jats:italic>, and <jats:italic>LHX4<\/jats:italic>) did not demonstrate a any mutation. In order to identify the genetic cause underlying the phenotypes we performed an array\u2010based comparative genomic hybridization (array\u2010CGH), which showed a cryptic interstitial deletion of 9p (200\u2009kb), including the <jats:italic>TEK<\/jats:italic> and <jats:italic>MOBKL2B<\/jats:italic>, in one patient. Although an apparently identical deletion was carried by the clinically normal father, we assumed that the patient's phenotype might be due to a recessive mutation in the other allele. However, sequence analysis of exons and splice junctions of these genes did not detect pathogenic or predisposing variants in the three patients. We suggest that the constellation of clinical signs in these patients constitutes a previously undescribed syndrome, whose genetic cause has yet to be identified. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35579","type":"journal-article","created":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T16:57:07Z","timestamp":1347901027000},"page":"2750-2755","source":"Crossref","is-referenced-by-count":1,"title":["Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?"],"prefix":"10.1002","volume":"158A","author":[{"given":"Emanuela","family":"Lucci\u2010Cordisco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Scommegna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Orteschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Galeazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brunetto","family":"Boscherini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,17]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"161","article-title":"Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: A variant of orofaciodigital syndrome VI or a new syndrome?","volume":"36","author":"Al Gazali LI","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345541"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-170183"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2001-0030"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80680-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2009.09.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0156"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.07.007"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03572.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000077661"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9332"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0426"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.193"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35579","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T03:25:48Z","timestamp":1694575548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,17]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1002\/ajmg.a.35579"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35579","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,17]]}}}