Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6

Genetics in Medicine

Volumn 11, Issue 12, 2009, Pages 852-858

  Plomp, Astrid S ^a,b   Bergen, Arthur A B ^a,b   Florijn, Ralph J ^a   Terry, Sharon F ^c   Toonstra, Johan ^d   Van Dijk, Marijke R ^d   De Jong, Paulus T V M ^a,b  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c PXE International   (United States)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

ABCC6; Heterozygote; Phenotypic variation; Pseudoxanthoma elasticum; PXE

Indexed keywords

ABC TRANSPORTER; PROTEIN ABCC6; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; EYE MALFORMATION; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; OPHTHALMOLOGY; PHENOTYPIC VARIATION; PSEUDOXANTHOMA ELASTICUM; SKIN BIOPSY; STRUCTURED QUESTIONNAIRE;

ADULT; AGED; CARDIOVASCULAR ABNORMALITIES; FEMALE; GENETIC HETEROGENEITY; GENETIC VARIATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; NETHERLANDS; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM; QUESTIONNAIRES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SKIN ABNORMALITIES; VISUAL ACUITY;

EID: 73849096783     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181c00a96     Document Type: Article

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