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MYSM1 activates Syndrome. 3 / 3
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"Homozygous LOF mutations in MYSM1 cause a syndrome of progressive bone marrow failure, immunodeficiency, and developmental abnormalities."
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"Following molecular diagnosis, the patient was prepared for HSCT.To date, only nine patients with IBMF syndrome caused by MYSM1 variation have been reported, including six patients homozygous for E390[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Recently, biallelic variants in MYSM1 have been reported to lead to a rare bone marrow failure (BMF) syndrome (OMIM #618116) in humans, which has been observed in only nine patients ( Al-Herz et al., [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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