Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.

Chiu, Wei-Ching; Chen, Shu-Huey; Lo, Mei-Chen; Kuo, Yung-Ting

Chiu, Wei-Ching; Chen, Shu-Huey; Lo, Mei-Chen; Kuo, Yung-Ting.

Afiliação

Chiu WC; Department of Pediatrics, Shuang Ho Hospital, Ministry of Health and Welfare, Taipei Medical University, No. 291, Zhongzheng Rd., Zhonghe District, New Taipei, 23561, Taiwan.
Chen SH; Department of Pediatrics, Shuang Ho Hospital, Ministry of Health and Welfare, Taipei Medical University, No. 291, Zhongzheng Rd., Zhonghe District, New Taipei, 23561, Taiwan.
Lo MC; Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, No. 250, Wu-Hsing Stree, Taipei, 110, Taiwan.
Kuo YT; Taipei Cancer Center, Taipei Medical University, Taipei, Taiwan.

BMC Pediatr ; 20(1): 495, 2020 10 27.

Article em En | MEDLINE | ID: mdl-33109150

Assuntos

Síndrome de Ehlers-Danlos; Mutação da Fase de Leitura; Pré-Escolar; Colágeno Tipo V/genética; Síndrome de Ehlers-Danlos/diagnóstico; Síndrome de Ehlers-Danlos/genética; Hematoma/etiologia; Hematoma/genética; Humanos; Masculino; Mutação; Síndrome

Palavras-chave

Bleeding diathesis; COL5A1 frameshift mutation; Collagen type V alpha-1 chain (COL5A1) gene; Collagen type V heparin-binding; Ehlers-Danlos syndrome classical type

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Síndrome de Ehlers-Danlos Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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