Longterm Follow-Up in Chondrodysplasia Punctata, Tibia-Metacarpal Type, Demonstrating Natural History

American Journal of Medical Genetics

Volumn 124 A, Issue 2, 2004, Pages 148-157

  Savarirayan, Ravi ^a,c   Boyle, Robert J ^a   Masel, John ^b   Rogers, John G ^a,c   Sheffield, Leslie J ^a,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Calcific stippling; Mesomelia; Osteochondrodysplasia; Punctate epiphyseal dysplasia

Indexed keywords

ARYLSULFATASE; PHYTANIC ACID; STEROL; VERY LONG CHAIN FATTY ACID;

ADULT; ARTICLE; BACKACHE; BODY HEIGHT; CASE REPORT; CHILDHOOD; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DISEASE COURSE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; FUNCTIONAL ASSESSMENT; GENE DELETION; GENE MUTATION; HIP DYSPLASIA; HISTORY; HUMAN; INTELLIGENCE; KARYOTYPING; LAMINECTOMY; LIPID ANALYSIS; LYMPHOCYTE; MALE; METACARPAL BONE; MUTATIONAL ANALYSIS; ORTHOPEDIC SURGERY; PATELLA DISLOCATION; PHYSICAL CAPACITY; PRIORITY JOURNAL; PROGNOSIS; RADIOLOGY; RECURRENT DISEASE; SEROUS OTITIS MEDIA; STEROID ANALYSIS; TIBIA; TYMPANOSTOMY TUBE; VERTEBRAL CANAL STENOSIS;

EID: 0346157031     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20383     Document Type: Article

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