A novel large in-frame <i>FBN1</i> deletion causes neonatal Marfan syndrome.

Elgaz, Sümeyye; Wittekindt, Boris; Esmaeili, Anoosh; Fischer, Sebastian; Bolz, Hanno J; Zechner, Ulrich; Buxmann, Horst

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.

Elgaz, Sümeyye; Wittekindt, Boris; Esmaeili, Anoosh; Fischer, Sebastian; Bolz, Hanno J; Zechner, Ulrich; Buxmann, Horst.

Afiliação

Elgaz S; Department of Neonatology, Clinic for Children and Adolescents, University Hospital, 60590 Frankfurt/Main, Germany.
Wittekindt B; Department of Neonatology, Clinic for Children and Adolescents, University Hospital, 60590 Frankfurt/Main, Germany.
Esmaeili A; Pediatric Heart Center of Hessen, Goethe University, 60590 Frankfurt am Main, Germany.
Fischer S; Institute for Diagnostic and Interventional Radiology, University Hospital, 60590 Frankfurt, Germany.
Bolz HJ; Senckenberg Centre for Human Genetics, 60314 Frankfurt/Main, Germany.
Zechner U; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany.
Buxmann H; Senckenberg Centre for Human Genetics, 60314 Frankfurt/Main, Germany.

Cold Spring Harb Mol Case Stud ; 8(6)2022 10.

Article em En | MEDLINE | ID: mdl-36307213

Assuntos

Síndrome de Marfan; Feminino; Humanos; Éxons/genética; Fibrilina-1/genética; Síndrome de Marfan/genética; Mutação; Fenótipo; Deleção de Sequência/genética

Palavras-chave

aortic aneurysm; arachnodactyly; cardiomegaly; hyperextensible thumb; microretrognathia; pulmonary hypertension; pulmonary valve defects; tricuspid regurgitation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Marfan Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Marfan Idioma: En Ano de publicação: 2022 Tipo de documento: Article