{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T16:09:37Z","timestamp":1779379777411,"version":"3.53.1"},"reference-count":20,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Noonan syndrome-like disorder with loose anagen hair 1 is a rasopathy caused by pathogenic variants in the SHOC2 gene, characterized mainly by short stature, facial dysmorphisms and ectodermal alterations. Case Presentation: This case describes an 18-year-old female with the pathogenic variant c.4A&gt;G in SHOC2, severe thrombocytopenia and facial asymmetry, features not currently considered part of the phenotype. While thrombocytopenia may be associated with the SHOC2 variant, a direct causal relationship cannot be definitively established, and the possibility of coexisting autoimmune disorders, such as systemic lupus erythematosus, could not be excluded. Conclusion: This case underscores the importance of early molecular diagnosis and comprehensive hematological monitoring in patients with rasopathies, highlighting the potential for life-threatening complications. Systematic reviews involving larger cohorts are needed to better define the clinical spectrum of NSLH1 and refine management strategies for potential complications.<\/jats:p>","DOI":"10.1159\/000551580","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T17:00:50Z","timestamp":1774544450000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Severe Thrombocytopenia and Facial Asymmetry in a Mexican Patient with Noonan Syndrome-Like Disorder with Loose Anagen Hair: Clinical Observations and Diagnostic Considerations"],"prefix":"10.1159","author":[{"given":"Luis Felipe","family":"Le\u00f3n-Madero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Stefan\u00eda","family":"Mart\u00ednez-Balda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5609-418X","authenticated-orcid":false,"given":"Carlos Alberto","family":"Venegas-Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38070"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmga.70035"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac071"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36098"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw229"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2025.103430"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.97"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22634"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.942377"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy366"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2017.00206"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1080\/01443615.2022.2034764"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36705"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.21037\/tp-24-113"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36697"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35318"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23767"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049107"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000551580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T16:01:33Z","timestamp":1779379293000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000551580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,26]]},"references-count":20,"URL":"https:\/\/doi.org\/10.1159\/000551580","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31889188","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,26]]}}}