Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: A fibroblast growth factor 23 mutation identified by exome sequencing

Nephrology Dialysis Transplantation

Volumn 29, Issue 12, 2014, Pages 2235-2243

  Shah, Anuja ^a   Miller, Clinton J ^b   Nast, Cynthia C ^a   Adams, Mark D ^c   Truitt, Barbara ^b   Tayek, John A ^a   Tong, Lili ^a   Mehtani, Parag ^a   Monteon, Francisco ^d   Sedor, John R ^e   Clinkenbeard, Erica L ^f   White, Kenneth ^f   Mehrotra, Rajnish ^a   LaPage, Janine ^a   Dickson, Patricia ^a   Adler, Sharon G ^a   Iyengar, Sudha K ^b  

^a HARBOR UCLA MEDICAL CENTER   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c J CRAIG VENTER INSTITUTE   (United States)

^d Hospital Mexico Americano   (Mexico)

^e METROHEALTH MEDICAL CENTER   (United States)

^f INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

vascular calcification

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; DNA; FIBROBLAST GROWTH FACTOR; PHOSPHATE;

ADULT; AGED; ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; BELOW KNEE AMPUTATION; BLOOD VESSEL CALCIFICATION; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; EXOME; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; HYPERPHOSPHATEMIA; IMMUNOHISTOCHEMISTRY; INDEL MUTATION; MALE; MORPHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR CALCINOSIS; VERY ELDERLY; BLOOD; CAFFEY DISEASE; CALCINOSIS; COMPLICATION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; VASCULAR CALCIFICATION;

ADULT; ALLELES; CALCINOSIS; DNA; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; EXOME; FEMALE; FIBROBLAST GROWTH FACTORS; GENOTYPE; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPERPHOSPHATEMIA; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; PHOSPHATES; VASCULAR CALCIFICATION;

EID: 84929082371     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu324     Document Type: Article

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