{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T07:04:06Z","timestamp":1767855846016,"version":"3.49.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>TARP syndrome is a rare X-linked genetic condition caused by mutations in the <jats:italic>RBM10<\/jats:italic> gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava. Newly reported cases identified a few novel <jats:italic>RBM10<\/jats:italic> variants and atypical manifestations associated with TARP syndrome, thus expanding the genetic and clinical spectrum of TARP syndrome. Here we report a molecularly confirmed TARP syndrome with distinctive clinical features including pulmonary arteriovenous malformation, single umbilical artery, and coagulopathy. We identified a frameshift <jats:italic>RBM10<\/jats:italic> variant that might be associated with his distinctive clinical features.<\/jats:p>","DOI":"10.3389\/fgene.2022.922048","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T04:43:40Z","timestamp":1659588220000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["A Frameshift RBM10 Variant Associated With TARP Syndrome"],"prefix":"10.3389","volume":"13","author":[{"given":"Han","family":"Daicheng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xia","family":"Shiwen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhang","family":"Jingxuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hu","family":"Junbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Bo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1006\/geno.1996.0022","article-title":"A Novel Gene, DXS8237E, Lies within 20 Kb Upstream of UBE1 in Xp11.23 and Has a Different X Inactivation Status","volume":"31","author":"Coleman","year":"1996","journal-title":"Genomics"},{"key":"B2","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1001\/archpedi.1970.02100050178020","article-title":"Robin's Syndrome","volume":"119","author":"Gorlin","year":"1970","journal-title":"Am. 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