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Characteristically, these conditions present with overlapping clinical features, such as nodules and\/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF\/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and\/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35228","type":"journal-article","created":{"date-parts":[[2012,3,2]],"date-time":"2012-03-02T02:47:54Z","timestamp":1330656474000},"page":"732-742","source":"Crossref","is-referenced-by-count":72,"title":["Identification of 2 novel <i>ANTXR2<\/i> mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system"],"prefix":"10.1002","volume":"158A","author":[{"given":"Rafael","family":"Denadai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassio E.","family":"Raposo\u2010Amaral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9bora","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nivaldo","family":"Alonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangwoo","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael F.","family":"Stelini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celso L.","family":"Buzzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesar A.","family":"Raposo\u2010Amaral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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