Associated Papers
Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.
Sills ES et al.
Global Medical Genetics, 2022
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M et al.
British Journal of Haematology, 2020
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
Shima H et al.
Journal of Medical Genetics, 2018
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