Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

Sadick, Victoria J; Fietz, Michael J; Tchan, Michel C; Kovoor, Pramesh; Thomas, Liza; Sadick, Norman

Sadick, Victoria J; Fietz, Michael J; Tchan, Michel C; Kovoor, Pramesh; Thomas, Liza; Sadick, Norman.

Afiliación

Sadick VJ; Faculty of Medicine, Dentistry and Health Science, University of Western Australia, Perth, Australia.
Fietz MJ; Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.
Tchan MC; Department of Genetic Medicine, Westmead Hospital, and Western Clinical School, University of Sydney, NSW, Australia.
Kovoor P; Department of Cardiology, Westmead Hospital, Westmead NSW, Australia.
Thomas L; Department of Cardiology Liverpool Hospital, Liverpool and UNSW, South Western Sydney Clinical School, NSW, Australia.
Sadick N; Department of Cardiology, Westmead Hospital, Westmead NSW, Australia; Department of Cardiology, Blacktown Hospital and University of Western Sydney, NSW, Australia. Electronic address: normansadick@gmail.com.

Heart Lung Circ ; 23(12): 1149-52, 2014 Dec.

Article en En | MEDLINE | ID: mdl-25086909

Asunto(s)

Cromosomas Humanos X/genética; Enfermedad de Fabry/genética; Genes Recesivos; Genes Ligados a X; Síndrome de Klinefelter/genética; Mutación; Enfermedad de Fabry/patología; Humanos; Síndrome de Klinefelter/patología; Masculino; Persona de Mediana Edad

Palabras clave

Cardiomyopathy; Fabry disease; Homozygous sex-linked recessive mutation.; Klinefelter syndrome; Nondisjunction of the X-chromosome

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Cromosomas Humanos X / Genes Ligados a X / Genes Recesivos / Síndrome de Klinefelter / Mutación Límite: Humans / Male / Middle aged Idioma: En Revista: Heart Lung Circ Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Australia

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