Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.

Buki, Gergely; Szalai, Renata; Pinter, Adrienn; Hadzsiev, Kinga; Melegh, Bela; Rauch, Tibor; Bene, Judit

Buki, Gergely; Szalai, Renata; Pinter, Adrienn; Hadzsiev, Kinga; Melegh, Bela; Rauch, Tibor; Bene, Judit.

Affiliation

Buki G; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Szalai R; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Pinter A; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Melegh B; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Rauch T; Department of Biochemistry and Medical Chemistry, Medical School, University of Pécs, Pécs, Hungary.
Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.

Mol Genet Genomic Med ; 11(7): e2166, 2023 07.

Article de En | MEDLINE | ID: mdl-36945115

Sujet(s)
Mots clés

FBN1; Marfan syndrome; cardiovascular manifestation; large deletion; regulatory DNA

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Syndrome de Marfan Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Mol Genet Genomic Med Année: 2023 Type de document: Article Pays d'affiliation: Hongrie Pays de publication: États-Unis d'Amérique

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