The overlap in clinical presentation and bone marrow features of acquired and inherited
causes of hypocellular marrow failure poses a significant diagnostic challenge in real case …

Abstract Copy Number Variants (CNVs) are an important cause of rare diseases. Array-
based Comparative Genomic Hybridization tests yield a∼ 12% diagnostic rate, with∼ 8% of …

Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell
aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA …

Objective To demonstrate experience and feasibility of a precision medicine approach for
patients with unexplained cytopenias, defined as low blood counts in one or more cell …

Background Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar
vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although …

Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic,
phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN …

6. Kung C, Hixon J, Kosinski PA, et al. AG-348 enhances pyruvate kinase activity in red
blood cells from patients with pyruvate kinase deficiency. Blood. 2017; 130 (11): 1347-1356 …

Inherited bone marrow failure syndromes (IBMFSs) are classified as a group of disorders
causing inborn errors of immunity under the International Union of Immunological Society …

Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous disorders
with cytopenia. Many IBMFSs also feature physical malformations and an increased risk of …

Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital
malformations, and mutations in ribosomal protein genes have been identified as the …