A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 7, 2012, Pages 553-556

  Akawi, Nadia A ^a   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

CACP; Camptodactyly arthropathy coxa vara pericarditis; Congenital cataract; Mutation; PRG4

Indexed keywords

COMPLEMENTARY DNA; PROTEOGLYCAN; PROTEOGLYCAN 4; UNCLASSIFIED DRUG;

ARTHROPATHY; ARTICLE; CAMPTODACTYLY; CAMPTODACTYLY ARTHROPATHY COXA VARA PERICARDITIS SYNDROME; CATARACT EXTRACTION; CHILD; CLINICAL ARTICLE; CODON; CONGENITAL CATARACT; CONGENITAL MALFORMATION; DNA SEQUENCE; EXON; FEMALE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERICARDITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; UNITED ARAB EMIRATES;

ADOLESCENT; ARTHROPATHY, NEUROGENIC; CATARACT; CHILD; CHILD, PRESCHOOL; CODON; CONSANGUINITY; COXA VARA; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTEOGLYCANS; SYNOVITIS; UNITED ARAB EMIRATES;

EID: 84863762595     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23031     Document Type: Article

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