{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:14:20Z","timestamp":1790957660904,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T00:00:00Z","timestamp":1513036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the <jats:italic>SMAD4<\/jats:italic> gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2\u2010year\u2010old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the <jats:italic>SMAD4<\/jats:italic> gene. Our patient presented with growth deficiency, dysmorphic features, tetralogy of Fallot, and corectopia (also known as <jats:italic>ectopia pupillae<\/jats:italic>). The girl we described is the youngest patient with Myhre syndrome. Moreover, corectopia and tetralogy of Fallot have not been previously reported in this disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38560","type":"journal-article","created":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T08:10:03Z","timestamp":1513066203000},"page":"426-430","source":"Crossref","is-referenced-by-count":23,"title":["A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot"],"prefix":"10.1002","volume":"176","author":[{"given":"Marianna","family":"Alagia","sequence":"first","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy"},{"name":"Medical Genetics Department of Biochemistry, Biophysics and General Pathology University of Campania \u2018Luigi Vanvitelli\u2019 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences University of Campania \u2018Luigi Vanvitelli\u2019 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[{"name":"Eye Clinic Multidisciplinary Department of Medical, Surgical and Dental Sciences University of Campania \u2018Luigi Vanvitelli\u2019 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Science University of Campania \u2018Luigi Vanvitelli\u2019 Naples Italy"},{"name":"Monaldi Hospital, AO Colli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Oppido","sequence":"additional","affiliation":[{"name":"Monaldi Hospital, AO Colli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy"},{"name":"Medical Genetics Department of Biochemistry, Biophysics and General Pathology University of Campania \u2018Luigi Vanvitelli\u2019 Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"TUDP","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.73.6.427"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36544"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.011"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-9874"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.022"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5597"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.791"},{"key":"e_1_2_5_9_1","first-page":"6958","article-title":"Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation","volume":"24","author":"Collin G. B.","year":"2015","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005002"},{"key":"e_1_2_5_11_1","unstructured":"Clinical Dysmorphology 2017 Myhre syndrome with novel findings: Bilateral congenital cortical cataract bilateral papilledema accessory nipple and adenoid hypertrophy"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2761-3"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20455"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2011-301396"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcjo.2015.12.019"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37739"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","first-page":"334","DOI":"10.3928\/0191-3913-19950901-16","article-title":"Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency","volume":"32","year":"1995","journal-title":"Journal of Pediatric Ophthalmology and Strabismus"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0462-0"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.288"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2011.101"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100819"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.06.005"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.002"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35892"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.283"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328349412b"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0968-y"},{"key":"e_1_2_5_30_1","first-page":"313","article-title":"Genetics of ectopia lentis semin","volume":"28","author":"Sadiq M. A.","year":"2013","journal-title":"Ophthalmol"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2012-302367"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-12687"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2014.09.012"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197711102971902"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37273"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.93"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.022"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.8.640"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-26"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37035"}],"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.38560","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38560","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38560","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38560","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T09:18:54Z","timestamp":1693991934000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,12]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1002\/ajmg.a.38560"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38560","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,12]]}}}