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Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.
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Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
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SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
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Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
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