Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation
Author:
Publisher
Elsevier BV
Subject
Cancer Research,Oncology,Hematology
Reference15 articles.
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2. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions;Beri-Dexheimer;Eur J Hum Genet,2008
3. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia;Song;Nat Genet,1999
4. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies;Buijs;Blood,2001
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2. Diagnosing familial platelet disorder with predisposition to myeloid malignancy: Lessons learned from a germline whole‐gene deletion of RUNX1;International Journal of Laboratory Hematology;2023-11-12
3. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML;Blood Advances;2020-03-24
4. Germline RUNX1 Intragenic Deletion: Implications for Accurate Diagnosis of FPD/AML;HemaSphere;2019-04-02
5. Inherited Thrombocytopenias;Platelets;2019
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