{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T08:06:57Z","timestamp":1779264417290,"version":"3.51.4"},"reference-count":7,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>&lt;p&gt;Introduction: Pallister-Hall-Like Syndrome (PHLS) (OMIM #241800), a rare ciliopathy associated with defects in the Sonic Hedgehog pathway, is characterized by postaxial polydactyly, hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Case Report: This report describes a 3-day-old girl from a consanguineous family diagnosed with bilateral postaxial polydactyly and facial dysmorphism. Genetic analysis revealed a homozygous pathogenic c.1726 C&gt;T; p.Arg576Trp variant in the SMO gene. Conclusion: Consanguineous marriage causes predisposition to ultra-rare conditions. There have been eleven documented cases of this ultra-rare syndrome. To our knowledge, this is the first reported case in Turkiye, enriching our clinical understanding of PHLS. &lt;\/p&gt;<\/jats:p>","DOI":"10.1159\/000541401","type":"journal-article","created":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T12:03:17Z","timestamp":1729080197000},"page":"259-263","source":"Crossref","is-referenced-by-count":1,"title":["Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene"],"prefix":"10.1159","volume":"16","author":[{"given":"Mertcan","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Musa","family":"Turgut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zmert Muhammed Ali","family":"\u00d6zdemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kadri","family":"Karaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nature00989"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nature03179"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3171\/2018.7.PEDS18292"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13730"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-01023-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nature04117"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000541401\/4289732\/000541401.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000541401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T16:04:23Z","timestamp":1758297863000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000541401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,15]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,6,4]]},"published-print":{"date-parts":[[2025,5,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000541401","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,15]]}}}