Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).

@article{Bacchelli1999IdentificationOH,
  title={Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).},
  author={Barbara Bacchelli and Daniela Quaglino and Dealba Gheduzzi and Francesca Taparelli and Federica Boraldi and B Trolli and Olivier Le Saux and Charles D. Boyd and Ivonne Pasquali Ronchetti},
  journal={Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc},
  year={1999},
  volume={12 12},
  pages={1112-23}
}
Skin biopsies of 18 healthy relatives of patients with pseudoxanthoma elasticum (PXE), belonging to six different recessive families, have been examined by optical and electron microscopy in order to determine morphologic alterations potentially useful for the identification of carriers of this genetic disorder. These morphologic features have been compared with those observed in the same tissue areas of eight PXE patients belonging to the same families, with six normal subjects, and to the… CONTINUE READING

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