A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.

@article{Dagher2001ACO,
  title={A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.},
  author={Hayat Dagher and Mark Buzza and Deb Colville and Chris Jones and Harley Powell and Rob Fassett and Diane M Wilson and Jeff Agar and Judy Savige},
  journal={American journal of kidney diseases : the official journal of the National Kidney Foundation},
  year={2001},
  volume={38 6},
  pages={1217-28}
}
Previous series that described phenotypes in carriers of Alport's syndrome did not distinguish genetically between carriers of X-linked and autosomal recessive disease. In this study, modes of inheritance in unselected families with Alport's syndrome associated with two city and two provincial hospitals were determined using microsatellite markers, and carriers of disease haplotypes were identified within these families. All 47 carriers (100%) from 18 families with X-linked Alport's syndrome… CONTINUE READING
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