{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:06:56Z","timestamp":1791295616062,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2014,1,15]],"date-time":"2014-01-15T00:00:00Z","timestamp":1389744000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2014,1,15]],"date-time":"2014-01-15T00:00:00Z","timestamp":1389744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1038\/ejhg.2013.288","type":"journal-article","created":{"date-parts":[[2014,1,15]],"date-time":"2014-01-15T11:27:46Z","timestamp":1389785266000},"page":"1272-1277","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Myhre and LAPS syndromes: clinical and molecular review of 32 patients"],"prefix":"10.1038","volume":"22","author":[{"given":"Caroline","family":"Michot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Le Goff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mentine","family":"Mahaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice S","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Destree","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Jacquemont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela E","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Manouvrier-Hanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Marlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"McGowan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas-Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Stolte-Dijkstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Sznajer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenneke","family":"van den Ende","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Van der Aa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ton","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,1,15]]},"reference":[{"key":"BFejhg2013288_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1399-0004.1981.tb01798.x","volume":"20","author":"SA Myhre","year":"1981","unstructured":"Myhre SA, Ruvalcaba RH, Graham CB : A new growth deficiency syndrome. Clin Genet 1981; 20: 1\u20135.","journal-title":"Clin Genet"},{"key":"BFejhg2013288_CR2","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1097\/MCD.0b013e3282f52828","volume":"17","author":"LE Becerra-Solano","year":"2008","unstructured":"Becerra-Solano LE, Diaz-Rodriguez M, Nastasi-Catanese JA et al: The fifth female patient with Myhre syndrome: further delineation. Clin Dysmorphol 2008; 17: 113\u2013117.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg2013288_CR3","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1136\/jmg.40.7.546","volume":"40","author":"L Burglen","year":"2003","unstructured":"Burglen L, Heron D, Moerman A et al: Myhre syndrome: new reports, review, and differential diagnosis. J Med Genet 2003; 40: 546\u2013551.","journal-title":"J Med Genet"},{"key":"BFejhg2013288_CR4","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1097\/00019605-200304000-00009","volume":"12","author":"NO Davalos","year":"2003","unstructured":"Davalos NO, Garcia-Ortiz JE, Garcia-Cruz D, Feria-Velasco A, Sanchez-Corona J : Myhre syndrome: first female case. Clin Dysmorphol 2003; 12: 119\u2013121.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg2013288_CR5","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1111\/j.1399-0004.1993.tb03880.x","volume":"44","author":"D Garcia-Cruz","year":"1993","unstructured":"Garcia-Cruz D, Figuera LE, Feria-Velazco A et al: The Myhre syndrome: report of two cases. Clin Genet 1993; 44: 203\u2013207.","journal-title":"Clin Genet"},{"key":"BFejhg2013288_CR6","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1097\/00019605-200404000-00007","volume":"13","author":"MG Lopez-Cardona","year":"2004","unstructured":"Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE et al: Second female case of Myhre syndrome. Clin Dysmorphol 2004; 13: 91\u201394.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg2013288_CR7","first-page":"e553","volume":"54","author":"R McGowan","year":"2011","unstructured":"McGowan R, Gulati R, McHenry P et al: Clinical features and respiratory complications in Myhre syndrome. Eur J Med Genet 2011; 54: e553\u2013e559.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2013288_CR8","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/ajmg.a.30444","volume":"134A","author":"I Rulli","year":"2005","unstructured":"Rulli I, Ferrero GB, Belligni E, Delmonaco AG, Defilippi C, Silengo M : Myhre\u2019s syndrome in a girl with normal intelligence. Am J Med Genet A 2005; 134A: 100\u2013102.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2013288_CR9","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1111\/j.1399-0004.1983.tb01979.x","volume":"23","author":"MA Soljak","year":"1983","unstructured":"Soljak MA, Aftimos S, Gluckman PD : A new syndrome of short stature, joint limitation and muscle hypertrophy. Clin Genet 1983; 23: 441\u2013446.","journal-title":"Clin Genet"},{"key":"BFejhg2013288_CR10","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1002\/ajmg.1517","volume":"103","author":"L Titomanlio","year":"2001","unstructured":"Titomanlio L, Marzano MG, Rossi E et al: Case of Myhre syndrome with autism and peculiar skin histological findings. Am J Med Genet 2001; 103: 163\u2013165.","journal-title":"Am J Med Genet"},{"key":"BFejhg2013288_CR11","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1002\/ajmg.a.30988","volume":"139A","author":"MA van Steensel","year":"2005","unstructured":"van Steensel MA, Vreeburg M, Steijlen PM, de Die-Smulders C : Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. Am J Med Genet A 2005; 139A: 127\u2013130.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2013288_CR12","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1097\/00019605-200104000-00011","volume":"10","author":"ML Whiteford","year":"2001","unstructured":"Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL : A new case of Myhre syndrome. Clin Dysmorphol 2001; 10: 135\u2013140.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg2013288_CR13","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/ajmg.10316","volume":"109","author":"NM Lindor","year":"2002","unstructured":"Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M : Confirmation of existence of a new syndrome: LAPS syndrome. Am J Med Genet 2002; 109: 93\u201399.","journal-title":"Am J Med Genet"},{"key":"BFejhg2013288_CR14","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<241::AID-AJMG12>3.0.CO;2-#","volume":"80","author":"RJ Hopkin","year":"1998","unstructured":"Hopkin RJ, Cotton R, Langer LO, Saal HM : Progressive laryngotracheal stenosis with short stature and arthropathy. Am J Med Genet 1998; 80: 241\u2013246.","journal-title":"Am J Med Genet"},{"key":"BFejhg2013288_CR15","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1002\/ajmg.a.32719","volume":"149A","author":"NM Lindor","year":"2009","unstructured":"Lindor NM : LAPS syndrome and Myhre syndrome: two disorders or one? Am J Med Genet A 2009; 149A: 798\u2013799.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2013288_CR16","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/ng.1016","volume":"44","author":"C Le Goff","year":"2012","unstructured":"Le Goff C, Mahaut C, Abhyankar A et al: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2012; 44: 85\u201388.","journal-title":"Nat Genet"},{"key":"BFejhg2013288_CR17","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.ajhg.2011.12.011","volume":"90","author":"V Caputo","year":"2012","unstructured":"Caputo V, Cianetti L, Niceta M et al: A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet 2012; 90: 161\u2013169.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013288_CR18","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1002\/ajmg.a.35374","volume":"158A","author":"NM Lindor","year":"2012","unstructured":"Lindor NM, Gunawardena SR, Thibodeau SN : Mutations of SMAD4 account for both LAPS and Myhre syndromes. Am J Med Genet A 2012; 158A: 1520\u20131521.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2013288_CR19","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/ajmg.1320580304","volume":"58","author":"EM Rosser","year":"1995","unstructured":"Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D : Geleophysic dysplasia: a report of three affected boys \u2013 prenatal ultrasound does not detect recurrence. Am J Med Genet 1995; 58: 217\u2013221.","journal-title":"Am J Med Genet"},{"key":"BFejhg2013288_CR20","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1016\/j.ejmg.2012.05.006","volume":"55","author":"E Al Ageeli","year":"2012","unstructured":"Al Ageeli E, Mignot C, Afenjar A et al: Retinal involvement in two unrelated patients with Myhre syndrome. Eur J Med Genet 2012; 55: 541\u2013547.","journal-title":"Eur J Med Genet"},{"issue":"8","key":"BFejhg2013288_CR21","doi-asserted-by":"publisher","first-page":"reviews3010.1","DOI":"10.1186\/gb-2001-2-8-reviews3010","volume":"2","author":"Liliana Attisano","year":"2001","unstructured":"Attisano L, Lee-Hoeflich ST : The Smads. Genome Biol 2001; 2: REVIEWS3010.","journal-title":"Genome Biology"},{"key":"BFejhg2013288_CR22","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.ydbio.2005.05.036","volume":"284","author":"J Zhang","year":"2005","unstructured":"Zhang J, Tan X, Li W et al: Smad4 is required for the normal organization of the cartilage growth plate. Dev Biol 2005; 284: 311\u2013322.","journal-title":"Dev Biol"},{"key":"BFejhg2013288_CR23","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1002\/dvdy.22014","volume":"238","author":"SM Yang","year":"2009","unstructured":"Yang SM, Hou ZH, Yang G et al: Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice. Dev Dyn 2009; 238: 1897\u20131908.","journal-title":"Dev Dyn"},{"key":"BFejhg2013288_CR24","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1016\/S0092-8674(03)00432-X","volume":"113","author":"Y Shi","year":"2003","unstructured":"Shi Y, Massague J : Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell 2003; 113: 685\u2013700.","journal-title":"Cell"},{"key":"BFejhg2013288_CR25","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1126\/science.280.5366.1086","volume":"280","author":"JR Howe","year":"1998","unstructured":"Howe JR, Roth S, Ringold JC et al: Mutations in the SMAD4\/DPC4 gene in juvenile polyposis. Science 1998; 280: 1086\u20131088.","journal-title":"Science"},{"key":"BFejhg2013288_CR26","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1126\/science.271.5247.350","volume":"271","author":"SA Hahn","year":"1996","unstructured":"Hahn SA, Schutte M, Hoque AT et al: DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science 1996; 271: 350\u2013353.","journal-title":"Science"},{"key":"BFejhg2013288_CR27","first-page":"2527","volume":"56","author":"M Schutte","year":"1996","unstructured":"Schutte M, Hruban RH, Hedrick L et al: DPC4 gene in various tumor types. Cancer Res 1996; 56: 2527\u20132530.","journal-title":"Cancer Res"},{"key":"BFejhg2013288_CR28","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.ajhg.2011.12.017","volume":"90","author":"A Goriely","year":"2012","unstructured":"Goriely A, Wilkie AO : Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet 2012; 90: 175\u2013200.","journal-title":"Am J Hum Genet"}],"updated-by":[{"DOI":"10.1038\/ejhg.2014.182","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2014,10,16]],"date-time":"2014-10-16T00:00:00Z","timestamp":1413417600000}}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013288.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013288","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013288.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:10:08Z","timestamp":1684429808000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013288"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,15]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["BFejhg2013288"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.288","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/ejhg.2014.182","asserted-by":"object"}]},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,15]]},"assertion":[{"value":"17 June 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 September 2013","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2013","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}