{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:15:58Z","timestamp":1788282958563,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T00:00:00Z","timestamp":1339977600000},"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":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with unknown skeletal dysplasia. Her phenotype fulfilled the clinical and radiological criteria for MS, such as typical facies with prognathism, hearing impairment, short stature, square body shape, and limited joint mobility. The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers\u2010against\u2010DPP homolog 4 (<jats:italic>SMAD4<\/jats:italic>) gene has been reported to cause MS. We sequenced <jats:italic>SMAD4<\/jats:italic> using standard PCR\u2010based technique and identified a recurrent mutation (p.Ile500 Thr). She attained menarche before 11 years of age; however, she developed oligomenorrhea after a few years of 40\u2010day cycles, necessitating hormone replacement therapy. The luteinizing hormone\u2010releasing hormone (LHRH) tests suggested abnormalities related to hypothalamo\u2010hypophyseal malfunction. Previous reports on MS described early menarche in girls and early or delayed puberty and cryptorchidism in boys. Therefore, we recommend performing an endocrinological evaluation of the hypothalamo\u2010hypophyseal\u2010gonadal axis in patients with MS to clarify whether hormonal abnormalities are associated with the syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35440","type":"journal-article","created":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T20:28:32Z","timestamp":1340051312000},"page":"1982-1986","source":"Crossref","is-referenced-by-count":18,"title":["First case of a Japanese girl with Myhre syndrome due to a heterozygous <i>SMAD4<\/i> mutation"],"prefix":"10.1002","volume":"158A","author":[{"given":"Yumi","family":"Asakura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087544"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282f52828"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.546"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.011"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00009"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20289"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03880.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5247.350"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5366.1086"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32719"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200404000-00007"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01798.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30444"},{"key":"e_1_2_5_18_1","first-page":"2527","article-title":"DPC4 gene in various tumor types","volume":"56","author":"Schutte M","year":"1996","journal-title":"Cancer Res"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01979.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1517"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30988"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<185::AID-AJMG19>3.0.CO;2-X"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00011"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22014"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.05.036"}],"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.35440","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T10:45:43Z","timestamp":1700563543000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,18]]},"references-count":24,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1002\/ajmg.a.35440"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35440","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,18]]}}}