Clinical phenotypes associated with type II collagen mutations

Journal of Paediatrics and Child Health

Volumn 48, Issue 2, 2012, Pages

  Kannu, Peter ^a,b,c   Bateman, John ^d   Savarirayan, Ravi ^d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b QUEEN S UNIVERSITY   (Canada)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

Author keywords

bilateral Perthes disease; COL2A1; epiphyseal dysplasia; multiple epiphyseal dysplasia (MED); skeletal dysplasia; stickler syndrome

Indexed keywords

COLLAGEN TYPE 2;

ARTHRITIS; BONE DYSPLASIA; CHONDRODYSPLASIA; CLEFT PALATE; CLINICAL FEATURE; COLLAGENOPATHY TYPE 2; EYE MALFORMATION; FOOT MALFORMATION; GENE STRUCTURE; HAND MALFORMATION; HEALTH CARE COST; HIP DISEASE; HUMAN; LEG LENGTHENING; MUSCULOSKELETAL DISEASE; MUTATIONAL ANALYSIS; NEWBORN DISEASE; NONHUMAN; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; RISK ASSESSMENT;

CHILD; CHILD, PRESCHOOL; COLLAGEN DISEASES; COLLAGEN TYPE II; HUMANS; INFANT, NEWBORN; LEGG-CALVE-PERTHES DISEASE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE;

EID: 84856888538     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2010.01979.x     Document Type: Review

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