Die mit einem Alport-Syndrom vergesellschaftete Leiomyomatose wird durch ein contiguous gene Syndrom, eine große deletion die gleichzeitig den Anfangsteil der beiden Gene COL4A5 und COL4A6 betrifft hervorgerufen. Die Diagnose kann molekulargenetisch mit der MLPA gestellt werden.
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OMIM.ORG article Omim 308940 |