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Inherited bone marrow failure syndrome
- ... the protein's function there. At least four inherited mutations in the SAMD9L gene have been found to cause ataxia-pancytopenia syndrome, a rare condition that affects the cerebellum and ...
- ... are called somatic mutations, and they are not inherited. Somatic mutations ... 21 or Down syndrome.Approximately 10 percent of people with Down syndrome ...
- ... cause X-linked infantile spinal muscular atrophy are inherited and present in all cells in the body. ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series ...
