Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: Novel missense mutations in GALNT3

Skeletal Radiology

Volumn 39, Issue 1, 2010, Pages 63-68

  Joseph, Leo ^a   Hing, Sandra N ^b   Presneau, Nadege ^c   O'Donnell, Paul ^b,c   Diss, Tim ^d   Idowu, Bernadine D ^b   Joseph, Selvanayagam ^a   Flanagan, Adrienne Margaret ^b,c,d,e   Delaney, David ^b  

^a Vinodhagan Memorial Hospital   (India)

^b ROYAL NATIONAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^e Institute of Orthopaedics and Musculoskeletal Science   (United Kingdom)

Author keywords

Bone neoplasms; GALNT3; Genetics; Musculoskeletal diseases; Mutation

Indexed keywords

N ACETYLGALACTOSAMINYLTRANSFERASE 3; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE;

ADULT; ALLELE; ARTICLE; BONE PAIN; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; EXON; EXTRACTION; FAMILY; FEMALE; HETEROZYGOTE; HUMAN; HYPEROSTOSIS; HYPERPHOSPHATEMIA; INDIA; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGENY; RECURRENT DISEASE; SCHOOL CHILD; SIBLING; TUMOR CALCINOSIS;

ADOLESCENT; BONE NEOPLASMS; CALCINOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERPHOSPHATEMIA; MALE; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; POLYMERASE CHAIN REACTION;

EID: 72349083738     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00256-009-0808-5     Document Type: Article

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