{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:45:41Z","timestamp":1771667141923,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005739","name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005739","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ellis\u2010van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (<jats:italic>EVC<\/jats:italic>, <jats:italic>EVC2<\/jats:italic>) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype\u2013genotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in <jats:italic>trans<\/jats:italic> in <jats:italic>EVC2<\/jats:italic>: c.[1195C&gt;T];[2161delC].<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This patient allowed a genotypic\u2013phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2451","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T06:34:22Z","timestamp":1716014062000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mexican patient with Ellis\u2010van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1680-2691","authenticated-orcid":false,"given":"Luis Felipe","family":"Le\u00f3n\u2010Madero","sequence":"first","affiliation":[{"name":"Medical Genetics Department Hospital General de M\u00e9xico Dr. Eduardo Liceaga  Mexico City Mexico"},{"name":"Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar Humberto","family":"Fregoso\u2010Ron","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico  Mexico City Mexico"},{"name":"Maternal Fetal Medicine Department Hospital General de M\u00e9xico Dr. Eduardo Liceaga  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Carlos","family":"De\u00a0Le\u00f3n\u2010Carbajal","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Department Hospital General de M\u00e9xico Dr. Eduardo Liceaga  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Manuel","family":"Vald\u00e9s\u2010Miranda","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Hospital General de M\u00e9xico Dr. Eduardo Liceaga  Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.11.009"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2023.100781"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010022\u201001293\u20108"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells12030358"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010021\u201003819\u20102"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab051"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/jdb8040025"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac958"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14040887"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24112"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_15_1","unstructured":"Sequence Variant Interpretation Working Group. (2019).SVI recommendation for in trans criterion (PM3)\u2014version 1.0. ClinGen Sequence Variant Interpretation Recommendation."},{"key":"e_1_2_10_16_1","unstructured":"Sequence Variant Interpretation Working Group. (2020).SVI Recommendation for Absence\/Rarity (PM2)\u2014Version 1.0. 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