Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 25-39

  Nitschke, Yvonne ^a   Baujat, Genevive ^b   Botschen, Ulrike ^a   Wittkampf, Tanja ^a   Du Moulin, Marcel ^a   Stella, Jacqueline ^a   Le Merrer, Martine ^b   Guest, Genevive ^c   Lambot, Karen ^c   Tazarourte Pinturier, Marie Frederique ^d   Chassaing, Nicolas ^e,f   Roche, Olivier ^b   Feenstra, Ilse ^g   Loechner, Karen ^h   Deshpande, Charu ⁱ   Garber, Samuel J ^j   Chikarmane, Rashmi ^k   Steinmann, Beat ^l   Shahinyan, Tatevik ^m   Martorell, Loreto ⁿ   Davies, Justin ^o   Smith, Wendy E ^p   Kahler, Stephen G ^q   McCulloch, Mignon ^r   Wraige, Elizabeth ^r   Loidi, Lourdes ^s   Höhne, Wolfgang ^t   Martin, Ludovic ^u   Hadj Rabia, Smaïl ^b   Terkeltaub, Robert ^v   Rutsch, Frank ^a   more..

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Pediatrics Unit   (France)

^e TOULOUSE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ PAUL SABATIER   (France)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF NORTH CAROLINA   (United States)

ⁱ GUY S HOSPITAL   (United Kingdom)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k SAINT PETER S UNIVERSITY HOSPITAL   (United States)

^l UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^m Arabkir Joint Medical Centre   (Armenia)

ⁿ HOSPITAL SANT JOAN DE DÉU   (Spain)

^o UNIVERSITY OF WALES   (United Kingdom)

^p Barbara Bush Children's Hospital   (United States)

^q ARKANSAS CHILDREN S HOSPITAL   (United States)

^r ST THOMAS HOSPITAL   (United Kingdom)

^s University Hospital of Santiago de Compostela   (Spain)

^t CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^u ANGERS UNIVERSITY HOSPITAL   (France)

^v UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANGIOID STREAK; ARTERY CALCIFICATION; ARTICLE; ATP-BINDING CASSETTE SUBFAMILY C NUMBER 6 GENE; CHILD; CONTROLLED STUDY; ECTO-NUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1 GENE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENERALIZED ARTERIAL CALCIFICATION OF INFANCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN TISSUE; INFANCY; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; QUESTIONNAIRE; RETROSPECTIVE STUDY; SCHOOL CHILD; SKIN DEFECT;

ANGIOID STREAKS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PHOSPHORIC DIESTER HYDROLASES; PSEUDOXANTHOMA ELASTICUM; PYROPHOSPHATASES; QUESTIONNAIRES; RETROSPECTIVE STUDIES; VASCULAR CALCIFICATION;

EID: 84855860969     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.020     Document Type: Article

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64. G. Lefthériotis, O. Vanakker, O. Le Saux, and L. Martin Reply to the article of C. Markello et al. entitled "Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum" Mol. Genet. Metab. 103 2011 199 200