Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: Consequences of this phenotype overlap for the definition of PXE

Archives of Dermatology

Volumn 144, Issue 3, 2008, Pages 301-306

  Martin, Ludovic ^a,e   Mâtre, Frédéric ^a   Bonicel, Pierre ^a   Daudon, Patrick ^a   Verny, Christophe ^b   Bonneau, Dominique ^b   Le Saux, Olivier ^c   Chassaing, Nicolas ^d  

^a Rheumatology Orléans Hospital   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF HAWAII   (United States)

^d CHU PURPAN   (France)

^e UNIVERSITÉ D'ANGERS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANGIOID STREAK; ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; ELASTIC FIBER; ELASTOSIS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OUTPATIENT DEPARTMENT; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PSEUDOXANTHOMA ELASTICUM; RASH; SKIN BIOPSY; SKIN DEFECT; SKIN EXAMINATION; VISUAL ACUITY; VITRECTOMY;

AGED; DIAGNOSIS, DIFFERENTIAL; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; PSEUDOXANTHOMA ELASTICUM;

EID: 41149104552     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.144.3.301     Document Type: Article

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