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

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDENADAI, Rafael
dc.contributor.authorRAPOSO-AMARAL, Cassio E.
dc.contributor.authorBERTOLA, Debora
dc.contributor.authorKIM, Chong
dc.contributor.authorALONSO, Nivaldo
dc.contributor.authorHART, Thomas
dc.contributor.authorHAN, Sangwoo
dc.contributor.authorSTELINI, Rafael F.
dc.contributor.authorBUZZO, Celso L.
dc.contributor.authorRAPOSO-AMARAL, Cesar A.
dc.contributor.authorHART, P. Suzanne
dc.date.accessioned2013-07-30T14:39:05Z
dc.date.available2013-07-30T14:39:05Z
dc.date.issued2012
dc.description.abstractJuvenile 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.description.indexMEDLINE
dc.description.sponsorshipIntramural NIH HHS
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.158A, n.4, p.732-742, 2012
dc.identifier.doi10.1002/ajmg.a.35228
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/340
dc.language.isoeng
dc.publisherWILEY-BLACKWELL
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccess
dc.rights.holderCopyright WILEY-BLACKWELL
dc.subjectanthrax toxin receptor 2 protein
dc.subjecthyaline fibromatosis syndrome
dc.subjectinfantile systemic hyalinosis
dc.subjectjuvenile hyaline fibromatosis
dc.subject.otherof-the-literature
dc.subject.othercapillary morphogenesis protein-2
dc.subject.otherfollow-up
dc.subject.otherjuvenile
dc.subject.othergene
dc.subject.otherinfant
dc.subject.wosGenetics & Heredity
dc.titleIdentification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryisous
hcfmusp.author.externalDENADAI, Rafael:Marilia Univ, Sch Med Sci, Marilia, SP, Brazil
hcfmusp.author.externalRAPOSO-AMARAL, Cassio E.:Brazilian Soc Res & Assistance Craniofacial Rehab, Inst Plast & Craniofacial Surg, BR-13094776 Campinas, SP, Brazil
hcfmusp.author.externalHART, Thomas:NIDCR, Human Craniofacial Genet Sect, NIH, Bethesda, MD USA
hcfmusp.author.externalHAN, Sangwoo:NIDR, NIH, Bethesda, MD 20892 USA
hcfmusp.author.externalSTELINI, Rafael F.:State Univ Campinas UNICAMP, Sch Med Sci, Dept Anat Pathol, Campinas, SP, Brazil
hcfmusp.author.externalBUZZO, Celso L.:Brazilian Soc Res & Assistance Craniofacial Rehab, Inst Plast & Craniofacial Surg, BR-13094776 Campinas, SP, Brazil
hcfmusp.author.externalRAPOSO-AMARAL, Cesar A.:Brazilian Soc Res & Assistance Craniofacial Rehab, Inst Plast & Craniofacial Surg, BR-13094776 Campinas, SP, Brazil
hcfmusp.author.externalHART, P. Suzanne:NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA
hcfmusp.citation.scopus54
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcNIVALDO ALONSO
hcfmusp.description.beginpage732
hcfmusp.description.endpage742
hcfmusp.description.issue4
hcfmusp.description.volume158A
hcfmusp.lim.ref2012
hcfmusp.origemWOS
hcfmusp.origem.pubmed22383261
hcfmusp.origem.scopus2-s2.0-84859981231
hcfmusp.origem.wosWOS:000302544200008
hcfmusp.publisher.cityMALDEN
hcfmusp.publisher.countryUSA
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