{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:02:00Z","timestamp":1777500120315,"version":"3.51.4"},"reference-count":5,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Cardiol"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>\n                    We present the clinical case of a 20-year-old male patient who presented recurrent pneumothorax on 5 occasions; in addition, he revealed a history of skeletal malformations in the hands and joint hypermobility. A genetic panel for connective tissue disorders was performed, in which a heterozygous variant in the gene was detected\n                    <jats:italic toggle=\"yes\">ABL1<\/jats:italic>\n                    : (NM_007313.2): c.199T&gt;C (p.Trp67Arg), which was classified as probably pathogenic, which is why the diagnosis of Heart Defects and Skeletal Malformations Syndrome was confirmed (CHDSKM).\n                  <\/jats:p>","DOI":"10.1177\/11795468251406974","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T06:45:38Z","timestamp":1765867538000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the\n                    <i>ABL1<\/i>\n                    Gene in a Peruvian patient: Case Report"],"prefix":"10.1177","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1100-3348","authenticated-orcid":false,"given":"Daniel","family":"Arauco-L\u00e1zaro","sequence":"first","affiliation":[{"name":"Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Per\u00fa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4773-328X","authenticated-orcid":false,"given":"Nelson D.","family":"Purizaca-Rosillo","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Universidad Cient\u00edfica del Sur, Lima, Per\u00fa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4697-6039","authenticated-orcid":false,"given":"Miguel A.","family":"Rojas-Huillca","sequence":"additional","affiliation":[{"name":"Departamento de Cirug\u00eda de T\u00f3rax y Cardiovascular, Hospital Nacional Edgardo Rebagliati Martins \u2013 HNERM, Lima, Peru"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8824-6176","authenticated-orcid":false,"given":"Salom\u00f3n","family":"V\u00e1squez-Villanueva","sequence":"additional","affiliation":[{"name":"Universidad Tecnol\u00f3gica del Per\u00fa (UTP), Lima, Per\u00fa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4725-6284","authenticated-orcid":false,"given":"Ericson L.","family":"Gutierrez","sequence":"additional","affiliation":[{"name":"Universidad San Ignacio de Loyola, Unidad de Investigaci\u00f3n para la Generaci\u00f3n y S\u00edntesis de Evidencias en Salud, Lima, Per\u00fa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,12,15]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3815"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24075"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63189"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62194"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.18203\/2349-3933.ijam20211066"}],"container-title":["Clinical Medicine Insights: Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795468251406974","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11795468251406974","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795468251406974","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:13:56Z","timestamp":1777389236000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11795468251406974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":5,"alternative-id":["10.1177\/11795468251406974"],"URL":"https:\/\/doi.org\/10.1177\/11795468251406974","relation":{},"ISSN":["1179-5468","1179-5468"],"issn-type":[{"value":"1179-5468","type":"print"},{"value":"1179-5468","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6]]},"article-number":"11795468251406974"}}