From clinical diagnosis to the discovery of multigene rare sequence variants in pseudoxanthoma elasticum: a case report

HIGHLIGHTS

• who: Federica Boraldi from the Department of Life Science, University of Modena and Reggio Emilia, Modena, Italy, Department of Neuroscience have published the article: From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report, in the Journal: (JOURNAL)

SUMMARY

Pseudoxanthoma elasticum (PXE; OMIM#264800) is an inherited disorder characterised by calcified elastic fibres. August 2021 | Volume 8 | Article 726856 Multigene Analysis and PXE PXE patients are typically carriers of two pathogenic variants in the ABCC6 gene, even though in ~10% of clinically affected patients only one . . .

 



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