Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.

Dekker, Silvy; Thijssen, Carlijn G E; Linde, Denise Vd; Vd Laar, Ingrid M B H; Saris, Jasper J; van Es, Adriaan C G M; Doormaal, Pieter-Jan van; van Bronswijk, Paul; van Kooten, Fop; Roos-Hesselink, Jolien W

Dekker, Silvy; Thijssen, Carlijn G E; Linde, Denise Vd; Vd Laar, Ingrid M B H; Saris, Jasper J; van Es, Adriaan C G M; Doormaal, Pieter-Jan van; van Bronswijk, Paul; van Kooten, Fop; Roos-Hesselink, Jolien W.

Afiliação

Dekker S; Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands.
Thijssen CGE; Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands.
Linde DV; Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands.
Vd Laar IMBH; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
Saris JJ; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
van Es ACGM; Department of Radiology, Erasmus MC, Rotterdam, the Netherlands.
Doormaal PV; Department of Radiology, Erasmus MC, Rotterdam, the Netherlands.
van Bronswijk P; Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands.
van Kooten F; Department of Neurology, Erasmus MC, Rotterdam, the Netherlands.
Roos-Hesselink JW; Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands. Electronic address: j.roos@erasmusmc.nl.

Eur J Med Genet ; 65(2): 104424, 2022 Feb.

Article em En | MEDLINE | ID: mdl-35031499

Assuntos

Aneurisma Aórtico/epidemiologia; Artérias/anormalidades; Aneurisma Intracraniano/epidemiologia; Instabilidade Articular/epidemiologia; Síndrome de Loeys-Dietz/patologia; Fenótipo; Dermatopatias Genéticas/epidemiologia; Malformações Vasculares/epidemiologia; Criança; Pré-Escolar; Feminino; Humanos; Lactente; Síndrome de Loeys-Dietz/complicações; Síndrome de Loeys-Dietz/genética; Masculino; Proteína Smad3/genética

Palavras-chave

Aorta aneurysms osteoarthritis syndrome; Cranial aneurysm/dissection/tortuosity; Loeys-Dietz syndrome type III; Neurovascular abnormalities; SMAD3 mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma Aórtico / Fenótipo / Artérias / Dermatopatias Genéticas / Aneurisma Intracraniano / Malformações Vasculares / Síndrome de Loeys-Dietz / Instabilidade Articular Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda

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