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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Heidet L et al. (1995) Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. ![]() |
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Zhou J et al. (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. ![]() |
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Anker MC et al. (2003) Alport syndrome with diffuse leiomyomatosis. ![]() |
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None (1953) Giant intramural leiomyoma of esophagus; a case report. ![]() |
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JOHNSTON JB et al. (1953) Smooth-muscle tumours of the oesophagus. ![]() |
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BLANK E et al. (1963) MUSCULAR HYPERTROPHY OF THE ESOPHAGUS: REPORT OF A CASE WITH INVOLVEMENT OF THE ENTIRE ESOPHAGUS. ![]() |
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Legius E et al. (1990) Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy. ![]() |
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Leichter HE et al. (1988) Alport's syndrome and achalasia. ![]() |
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Cochat P et al. (1988) Diffuse leiomyomatosis in Alport syndrome. ![]() |
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Srivastava AK et al. (1995) YAC contigs mapping the human COL4A5 and COL4A6 genes and DXS118 within Xq21.3-q22. ![]() |
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Renieri A et al. (1994) Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. ![]() |
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Heidet L et al. (1997) Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. ![]() |
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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![]() |