A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
September 2016
in “
Journal of Dermatological Science
”
Studysummary This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
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