Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.

Blanco, Maria Laura; Torrent, Montserrat; Bussaglia, Elena; Badell, Isabel; Nomdedéu, Josep F

Blanco, Maria Laura; Torrent, Montserrat; Bussaglia, Elena; Badell, Isabel; Nomdedéu, Josep F.

Afiliación

Blanco ML; Department of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Torrent M; Department of and Pediatrics Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Bussaglia E; Department of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Badell I; Department of and Pediatrics Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
Nomdedéu JF; Department of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.

Clin Case Rep ; 8(12): 3193-3197, 2020 Dec.

Article en En | MEDLINE | ID: mdl-33363905

ABSTRACT

ABSTRACT

We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS).

Palabras clave

GATA2; deafness; lymphedema; myelodysplastic syndrome; warts

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Clin Case Rep Año: 2020 Tipo del documento: Article

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