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Type: Artigo
Title: Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system
Author: Denadai, Rafael
Raposo-Amaral, Cassio E.
Bertola, Débora
Kim, Chong
Alonso, Nivaldo
Hart, Thomas
Han, Sangwoo
Stelini, Rafael F.
Buzzo, Celso L.
Raposo-Amaral, Cesar A.
Hart, P. Suzanne
Abstract: Juvenile 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
metadata.dc.description.abstractalternative: , , ,
Subject: Morfogenese
Country: Estados Unidos
Editor: John Wiley & Sons
Rights: Fechado
Identifier DOI: 10.1002/ajmg.a.35228
Date Issue: 2012
Appears in Collections:FCM - Artigos e Outros Documentos

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