Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.

Kose, Canan Ceylan; Kaya, Derya; Akcan, Mehmet Berkay; Silan, Fatma

Kose, Canan Ceylan; Kaya, Derya; Akcan, Mehmet Berkay; Silan, Fatma.

Afiliación

Kose CC; Department of Medical Genetics, Çanakkale Onsekiz Mart University, Faculty of Medicine, Çanakkale, Turkey.
Kaya D; Department of Medical Genetics, Çanakkale Onsekiz Mart University, Faculty of Medicine, Çanakkale, Turkey.
Akcan MB; Department of Medical Genetics, Çanakkale Onsekiz Mart University, Faculty of Medicine, Çanakkale, Turkey.
Silan F; Department of Medical Genetics, Çanakkale Onsekiz Mart University, Faculty of Medicine, Çanakkale, Turkey.

Am J Med Genet A ; 191(8): 2209-2214, 2023 08.

Article en En | MEDLINE | ID: mdl-37190896

Asunto(s)

Anemia; Blefaroptosis; Discapacidad Intelectual; Anomalías Musculoesqueléticas; Trombocitopenia; Humanos; Discapacidad Intelectual/diagnóstico; Discapacidad Intelectual/genética; Mutación; Facies; Blefaroptosis/genética; Proteínas de Unión al ADN/genética; Proteínas Adaptadoras Transductoras de Señales/genética

Palabras clave

BRPF1; IDDDFP; anemia; dysmorphic features; thrombocytopenia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trombocitopenia / Blefaroptosis / Anemia / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Turquía

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