ABCC6 p.Arg166Cys
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PMID: 18347285
[PubMed]
Martin L et al: "Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE."
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Sentence
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64
However, the patient`ssisterhadtypicalPXEwithcompleteandsevereskin, eye, and vascular involvement, associated with 2 disease-causing variants (c.ABCC6del and c.496C→T [p.Arg166Cys]).
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ABCC6 p.Arg166Cys 18347285:64:177
status: NEW