{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:37:43Z","timestamp":1790469463992,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,10,18]],"date-time":"2011-10-18T00:00:00Z","timestamp":1318896000000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2013Lowry syndrome (CLS) is an X\u2010linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and skeletal malformations. The syndrome is due to mutations in the gene that encodes the ribosomal protein S6 kinase\u20102, a growth factor\u2010regulating protein kinase located on Xp22.2. Cardiac anomalies are known to be associated with CLS. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by left ventricular (LV) myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may present with a variety of clinical phenotypes, ranging from a complete absence of symptoms to a rapid, progressive decline in LV systolic and diastolic function, resulting in congestive heart failure, malignant ventricular tachyarrhythmias, and systemic thromboembolic events. Restrictive cardiomyopathy is an uncommon primary cardiomyopathy characterized by biatrial enlargement, normal or decreased biventricular volume, impaired ventricular filling, and normal or near\u2010normal systolic function. We describe a patient with CLS and LVNC with a restrictive pattern, as documented by echocardiography and cardiac catheterization. To our knowledge, there have been no previous reports of concomitant CLS and LVNC. On the basis of our case, we suggest that patients with CLS be screened not only for congenital structural heart defects but also for LVNC cardiomyopathy. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33856","type":"journal-article","created":{"date-parts":[[2011,10,25]],"date-time":"2011-10-25T10:08:05Z","timestamp":1319537285000},"page":"3030-3034","source":"Crossref","is-referenced-by-count":32,"title":["Coffin\u2013Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern"],"prefix":"10.1002","volume":"155","author":[{"given":"Hugo R.","family":"Martinez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary C.","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Pignatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Vatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John L.","family":"Jefferies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.671735"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2009.07.003"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000067991.73943.4F"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hfc.2010.05.005"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-008-9372-3"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30056"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(84)90618-0"},{"key":"e_1_2_4_9_1","doi-asserted-by":"crossref","unstructured":"HanauerA YoungID.2002.Coffin\u2013Lowry syndrome: Clinical and molecular features. Report nr 1468\u20106244 (Electronic) 0022\u20102593 (Linking) pp. 705\u2013713.","DOI":"10.1136\/jmg.39.10.705"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10574"},{"key":"e_1_2_4_11_1","volume-title":"GeneReviews","author":"Hunter AGW","year":"2009"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-08-0995"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2006.01.021"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4644(19981101)71:2<286::AID-JCB13>3.0.CO;2-J"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021715"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejheart.2006.02.014"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.174287"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb01143.x"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejechocard\/jep156"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021737"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.2.153"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01735-06"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.189"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000100664.10777.B8"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.8.876"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.93.5.841"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000131865.21260.56"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00395-004-0506-3"},{"key":"e_1_2_4_29_1","doi-asserted-by":"crossref","unstructured":"TrivierE De CesareD JacquotS PannetierS ZackaiE YoungI MandelJL Sassone\u2010CorsiP HanauerA.1996.Mutations in the kinase Rsk\u20102 associated with Coffin\u2013Lowry syndrome. Report nr 0028\u20100836 (Print) 0028\u20100836 (Linking) pp. 567\u2013570.","DOI":"10.1038\/384567a0"},{"key":"e_1_2_4_30_1","first-page":"713","article-title":"Myocardial expression and NHE1 kinase activity of p90RSK isoforms","volume":"36","author":"Wagner C","year":"2004","journal-title":"J Mol Cell Cardiol"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2929"}],"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.33856","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:14:11Z","timestamp":1697638451000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,18]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.33856"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33856","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,18]]}}}