A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 1-2, 2011, Pages 105-108

  Temiz, Fatih ^a   Ozbek, Mehmet Nuri ^a   Kotan, Damla ^a   Sangun, Ozlem ^a   Mungan, Neslihan Onenli ^a   Yuksel, Bilgin ^a   Topaloglu, Ali Kemal ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Progressive pseudorheumatoid arthropathy of childhood; WISP3 mutation

Indexed keywords

CCN PROTEIN; CYSTEINE; GLUCOSE; GROWTH HORMONE; INSULIN; NUCLEOTIDE; PAMIDRONIC ACID; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; UNCLASSIFIED DRUG; WNT1 INDUCIBLE SIGNALING PATHWAY PROTEIN 3;

ADOLESCENT; ANAMNESIS; ARTHROPATHY; ARTICLE; BONE DENSITY; CASE REPORT; CHILD; FEMALE; FINGER JOINT; GENE MUTATION; GENE SEQUENCE; HUMAN; JOINT STIFFNESS; JOINT SWELLING; LABORATORY TEST; MALE; ORTHOPEDIC SURGERY; OSTEOPENIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD; SIBLING; VALGUS KNEE;

ADOLESCENT; ARTHROPATHY, NEUROGENIC; BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 79955506500     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2011.117     Document Type: Article

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