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12-year-old with ultra-rare genetic disorder recovers after life-saving transplant – The Times of India

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12-year-old with ultra-rare genetic disorder recovers after life-saving transplant – The Times of India

Doctors have successfully treated India's first known case of MYSM1-related bone marrow failure syndrome (BMFS4), an extremely rare genetic condition, using a half-matched (haploidentical) bone marrow transplant.MYSM1-related bone marrow failure is an extremely uncommon hereditary condition resulting from mutations in both alleles of the MYSM1 gene. There have been fewer than 20 cases reported around the world, which makes diagnosis…

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