A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco.

Afiliação

Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address: marina.colombi@unibs.it.
Dordoni C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Cinquina V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, University Hospital Spedali Civili, Brescia, Italy.
Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

Eur J Med Genet ; 61(1): 17-20, 2018 Jan.

Article em En | MEDLINE | ID: mdl-29024828

Assuntos

Síndrome de Ehlers-Danlos/genética; Fenótipo; Colágeno Tipo V/genética; Síndrome de Ehlers-Danlos/patologia; Feminino; Humanos; Pessoa de Meia-Idade; Mutação; Linhagem; Splicing de RNA; Adulto Jovem

Palavras-chave

COL5A1; Classical Ehlers-Danlos syndrome; Differential diagnosis; Hypermobile Ehlers-Danlos syndrome; Mast cells

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Ehlers-Danlos Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

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