{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T05:03:24Z","timestamp":1769835804179,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T00:00:00Z","timestamp":1584662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in <jats:italic>ANTXR2<\/jats:italic> which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Based on the case of an 11\u2010year\u2010old female patient with typical features of hyaline fibromatosis syndrome and the underlying pathogenic compound heterozygote variants in <jats:italic>ANTXR2<\/jats:italic> we discuss the genetic and clinical aspects of hyaline fibromatosis syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The novel mutation in <jats:italic>ANTXR2<\/jats:italic> (c.1223T&gt;C, p.Leu408Pro variant) seems to allow for a protracted course of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1203","type":"journal-article","created":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T18:38:25Z","timestamp":1584729505000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1216-4227","authenticated-orcid":false,"given":"Bettina","family":"H\u00e4rter","sequence":"first","affiliation":[{"name":"Division of Pediatric Surgery Department of Visceral, Transplant and Thoracic Surgery Center of Operative Medicine Innsbruck Medical University Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Benedicenti","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Innsbruck Medical University Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekkehard","family":"Lausch","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Section Department of Pediatrics University of Freiburg Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Schweigmann","sequence":"additional","affiliation":[{"name":"Department of Radiology Innsbruck Medical University Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Stanzial","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Scholl\u2010B\u00fcrgi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Innsbruck Medical University Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15861"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20872"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201100124"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2011.442"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/378781"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2009.09.060"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/378418"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2007.06.008"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.01.039"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0824"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(03)02798-1"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010422)100:2<122::AID-AJMG1236>3.0.CO;2-0"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.03.042"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21214.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22324"}],"container-title":["Molecular Genetics &amp; 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