Leiomyomatosis with Alport syndrome is a contiguous gene deletion that involves the beginning of the two genes COL4A5 and COL4A6. A diagnosis is possible by MLPA.
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Segal Y et al. (1999) LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. |
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OMIM.ORG article Omim 308940 |