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Clinical and genetic aspects of pseudoxanthoma elasticum.Pseudoxantoma Elasticum: A clinical, histopathological and molecular updateMutations in ABCC6 cause pseudoxanthoma elasticumLONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONSABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief reportIdentification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndromeDoes Autosomal Dominant Pseudoxanthoma Elasticum Exist?Veranderend zicht op erfelijke oogaandoeningenProposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 GeneExpanding the spectrum of FOXC1 and PITX2 mutations and copy nnumber changes in patients with anterior segment malformations.From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene.Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.