Inherited Bone Marrow Failure Syndromes in Children
نویسندگان
چکیده
Inherited bone marrow failure syndromes are disorders of hematopoiesis that mostly encountered in childhood. Taking the basisfrom genetics, they characterized by pancytopenia, increased risk developing myelodysplastic syndrome and malignancy.Extrahematopoietic presentations observed often addition to symptoms related defective (also known asbone failure). The biology, clinical features, management main such as Fanconi anemia, dyskeratosiscongenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan andsevere neutropenia briefly summarized this review.
منابع مشابه
Inherited bone marrow failure syndromes: molecular features.
Recent advances resulting from the identification of the genes responsible for four inherited marrow failure syndromes, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, are reviewed. The interpretation of genetic testing should be guided by an understanding of the limitations of such testing for each disorder. The possibility of an inherited basis...
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ژورنال
عنوان ژورنال: The journal of pediatric academy
سال: 2023
ISSN: ['2718-0875']
DOI: https://doi.org/10.4274/jpea.2023.218