Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 267-272

  Lorenz Depiereux, Bettina ^a   Schnabel, Dirk ^b   Tiosano, Dov ^c,d   Häusler, Gabriele ^e   Strom, Tim M ^a,f  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MEYER CHILDREN S HOSPITAL   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; BISPHOSPHONIC ACID DERIVATIVE; CALCITRIOL; DENTIN MATRIX PROTEIN 1; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; ETIDRONIC ACID; FIBROBLAST GROWTH FACTOR 23; GROWTH HORMONE DERIVATIVE; NIFEDIPINE; PHOSPHATE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHODIESTERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTERY CALCIFICATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL TRIAL; COHORT ANALYSIS; CONTROLLED STUDY; DIET SUPPLEMENTATION; FAMILY; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; HYPOPHOSPHATEMIC RICKETS; INFANCY; LOSS OF FUNCTION MUTATION; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; CALCINOSIS; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GENES, RECESSIVE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHORIC DIESTER HYDROLASES; PYROPHOSPHATASES; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 76049105171     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.01.006     Document Type: Article

References (16)

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