NIVALDO ALONSO

(Fonte: Lattes)
Índice h a partir de 2011
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Lattes
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Departamento de Cirurgia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/04 - Laboratório de Microcirurgia, Hospital das Clínicas, Faculdade de Medicina - Líder

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Autor e Coautores FMUSP-HC Normalizados: DEBORA ROMEO BERTOLA × Assunto: anthrax toxin receptor 2 protein ×

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  • article 55 Citação(ões) na Scopus
    Identification of 2 Novel ANTXR2 Mutations in Patients With Hyaline Fibromatosis Syndrome and Proposal of a Modified Grading System
    (2012) DENADAI, Rafael; RAPOSO-AMARAL, Cassio E.; BERTOLA, Debora; KIM, Chong; ALONSO, Nivaldo; HART, Thomas; HAN, Sangwoo; STELINI, Rafael F.; BUZZO, Celso L.; RAPOSO-AMARAL, Cesar A.; HART, P. Suzanne
    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. (C) 2012 Wiley Periodicals, Inc.