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ZMPSTE24 compound heterozygous mutations c.794A>G and c.1204-1G>A leading to MAD-B in a Turkish family. Segregation of the mutations ZMPSTE24 c.794A>G and c.1204-1G>A in family 7 and sequencing pherograms of ZMPSTE24 c.794A>G and c.1204-1G>A in the index case.
