Type 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report.

Lapic, Ivana; Radic Antolic, Margareta; Rogic, Dunja; Dejanovic Bekic, Sara; Coen Herak, Désirée; Bilic, Ernest; Zadro, Renata

Type 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report.

Lapic, Ivana; Radic Antolic, Margareta; Rogic, Dunja; Dejanovic Bekic, Sara; Coen Herak, Désirée; Bilic, Ernest; Zadro, Renata.

Afiliación

Lapic I; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Radic Antolic M; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Rogic D; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Dejanovic Bekic S; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia.
Coen Herak D; Referral Center for Pediatrics Hematology and Oncology, Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
Bilic E; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Zadro R; Referral Center for Pediatrics Hematology and Oncology, Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

Lab Med ; 54(4): 434-438, 2023 Jul 05.

Article en En | MEDLINE | ID: mdl-36468906

Asunto(s)

Enfermedad de von Willebrand Tipo 1; Enfermedades de von Willebrand; Masculino; Humanos; Niño; Factor de von Willebrand/genética; Factor de von Willebrand/análisis; Enfermedad de von Willebrand Tipo 1/diagnóstico; Enfermedad de von Willebrand Tipo 1/genética; Enfermedad de von Willebrand Tipo 1/complicaciones; Enfermedades de von Willebrand/diagnóstico; Enfermedades de von Willebrand/genética; Enfermedades de von Willebrand/complicaciones; Hemorragia; Exones/genética

Palabras clave

bleeding; coagulation testing; multiplex ligation-dependent probe amplification; next-generation sequencing; von Willebrand disease; von Willebrand factor

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de von Willebrand / Enfermedad de von Willebrand Tipo 1 Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Lab Med Año: 2023 Tipo del documento: Article País de afiliación: Croacia Pais de publicación: Reino Unido

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