Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.

Haan, Eric A; Chamalaun, Francois H; Chamuleau, Steven A J; Arnolda, Leonard F; Slavotinek, John P; Wise, Nadia C; Gunawardane, Dimuth N; Schwarze, Ulrike; Byers, Peter H; Gabb, Genevieve M

Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.

Haan, Eric A; Chamalaun, Francois H; Chamuleau, Steven A J; Arnolda, Leonard F; Slavotinek, John P; Wise, Nadia C; Gunawardane, Dimuth N; Schwarze, Ulrike; Byers, Peter H; Gabb, Genevieve M.

Afiliación

Haan EA; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide and Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Chamalaun FH; Flagstaff Hill, Adelaide, South Australia, Australia.
Chamuleau SAJ; Department of Cardiology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Arnolda LF; Medical School, Australian National University, Australian Capital Territory, Canberra, Australian Capital Territory, Australia.
Slavotinek JP; Department of Radiology, Flinders Medical Center and Repatriation Health Precinct, SA Medical Imaging, SA Health and College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
Wise NC; Vascular Surgery, Division of Surgery, Flinders Medical Center and College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
Gunawardane DN; Department of Anatomical Pathology/SA Pathology, Flinders Medical Center and Department of Anatomical Pathology/SA Pathology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Schwarze U; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Byers PH; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
Gabb GM; Cardiac and Critical Care, Division of Medicine, Flinders Medical Center, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.

Am J Med Genet A ; 185(7): 2180-2189, 2021 07.

Article en En | MEDLINE | ID: mdl-33878224

Asunto(s)

Aneurisma de la Aorta/genética; Fibrilina-1/genética; Predisposición Genética a la Enfermedad; Síndrome de Marfan/genética; Anciano; Anciano de 80 o más Años; Aneurisma de la Aorta/complicaciones; Aneurisma de la Aorta/patología; Exones; Femenino; Pruebas Genéticas; Humanos; Inmunoglobulina G/genética; Masculino; Síndrome de Marfan/complicaciones; Síndrome de Marfan/fisiopatología; Persona de Mediana Edad; Mutación

Palabras clave

FBN1; IgG4-related disease; Marfan syndrome; arterial aneurysm; familial thoracic aortic aneurysm

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Aneurisma de la Aorta / Predisposición Genética a la Enfermedad / Fibrilina-1 / Síndrome de Marfan Tipo de estudio: Prognostic_studies Límite: Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Australia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google