Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene
Open Access
- 1 July 2001
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (7) , 457-461
- https://doi.org/10.1136/jmg.38.7.457
Abstract
Seven unrelated patients presenting with PXE were evaluated for mutational analysis of the ABCC6 gene. For each proband, diagnosis of PXE was consistent with previously reported consensus criteria,8 which include a positive von Kossa stain of a skin biopsy, indicating calcification of elastic fibres, in combination with specific cutaneous and ocular manifestations (angioid streaks).Keywords
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