Article
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
The Journal of investigative dermatology - 1 Sept 2014
Kariminejad Ariana, Bozorgmehr Bita, Najafi Abdolhamid, Khoshaeen Atefeh, Ghalandari Maryam, Najmabadi Hossein, Kariminejad Mohamad H, Vanakker Olivier M, Hosen Mohammad J, Malfait Fransiska, Quaglino Daniela, Florijn Ralph J, Bergen Arthur A B, Hennekam Raoul C
Abstract excerpt
Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, and multiple vitamin K-dependent coagulation factor deficiencies. We report on the clinical findings and molecular results in 13 affected members of two families who had a uniform phenotype consisting of (PXE)-like skin manifestations in the neck and trunk, loose...
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