Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign

American Journal of Medical Genetics

Volumn 122 A, Issue 3, 2003, Pages 187-192

  Mäkitie, Outi ^a,d   Savarirayan, Ravi ^b   Bonafé, Luisa ^c   Robertson, Stephen ^b   Susic, Miki ^a   Superti Furga, Andrea ^c   Cole, William G ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Double patella; DTDST; Hip dysplasia; Multiple epiphyseal dysplasia; Recessive MED

Indexed keywords

GENE PRODUCT; PROTEOCHONDROITIN SULFATE;

ACHONDROPLASIA; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CHILD; DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE; EPIPHYSIS DISEASE; FEMALE; GENE; GENE MUTATION; HIP DYSPLASIA; HOMOZYGOSITY; HUMAN; MALE; MULTIGENE FAMILY; PATELLA DISLOCATION; PRIORITY JOURNAL; RELIABILITY; STOP CODON; TOTAL HIP PROSTHESIS;

EID: 0141746302     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20282     Document Type: Article

References (17)

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