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2c.1607_c.1611delAAGAG and c.1432CT, which was respectively inherited from his parents. Genealogy verification confirmed that the c.1432CT mutation carried by the father was from the grandfather (father's father) , whereas the c.1607_c.1611delAAGAG mutation carried by the mother was from the grandfather (mother's father) , whereas the grandmothers, aunts, and uncle did not carry the mutation. The child was diagnosed with BMFS4 combined with clinical phenotypic and molecular genetic findings. Conclusion This case provides a case
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