Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System

dc.creatorDenadai, Rafael
dc.creatorRaposo-Amaral, Cassio E.
dc.creatorBertola, Debora
dc.creatorKim, Chong
dc.creatorAlonso, Nivaldo
dc.creatorHart, Thomas
dc.creatorHan, Sangwoo
dc.creatorStelini, Rafael F.
dc.creatorBuzzo, Celso L.
dc.creatorRaposo-Amaral, Cesar A.
dc.creatorHart, P. Suzanne
dc.date2012
dc.date2013-09-19T18:06:32Z
dc.date2016-07-01T15:08:38Z
dc.date2013-09-19T18:06:32Z
dc.date2016-07-01T15:08:38Z
dc.date.accessioned2018-03-29T01:55:18Z
dc.date.available2018-03-29T01:55:18Z
dc.identifierAmerican Journal of Medical Genetics Part A. Wiley-Blackwell, v.158A, n.4, p.732-742, 2012
dc.identifier1552-4825
dc.identifierWOS:000302544200008
dc.identifier10.1002/ajmg.a.35228
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/2242
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/2242
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1308759
dc.descriptionJuvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. 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. (C) 2012 Wiley Periodicals, Inc.
dc.description158A
dc.description4
dc.description732
dc.description742
dc.languageeng
dc.publisherWiley-Blackwell
dc.publisherMalden
dc.relationAmerican Journal of Medical Genetics Part A
dc.rightsfechado
dc.sourceWOS
dc.subjectanthrax toxin receptor 2 protein
dc.subjectcapillary morphogenesis protein-2
dc.subjecthyaline fibromatosis syndrome
dc.subjectinfantile systemic hyalinosis
dc.subjectjuvenile hyaline fibromatosis
dc.subjectof-THE-LITERATURE
dc.subjectCAPILLARY MORPHOGENESIS PROTEIN-2
dc.subjectFOLLOW-UP
dc.subjectJUVENILE
dc.subjectGENE
dc.subjectINFANT
dc.titleIdentification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System
dc.typeArtículos de revistas


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