Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

Journal of Medical Genetics

Volumn 36, Issue 8, 1999, Pages 621-624

  Superti Furga, Andrea ^a   Neumann, Luitgard ^b   Riebel, Thomas ^b   Eich, Georg ^a   Steinmann, Beat ^a   Spranger, Jürgen ^c   Kunze, Jürgen ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b HUMBOLDT UNIVERSITY   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Double layered patella; DTDST; Multiple epiphyseal dysplasia

Indexed keywords

SULFATE;

ACHONDROGENESIS; ADULT; ARTICLE; ATELOSTEOGENESIS; BONE DYSPLASIA; CASE REPORT; CLUBFOOT; DNA DETERMINATION; DNA SEQUENCE; EPIPHYSIS; FIBROBLAST; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; HIP DYSPLASIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MULTIPLE EPIPHYSEAL DYSPLASIA; PATELLA; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ADULT; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; GENETIC COUNSELING; HAND; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; OSTEOCHONDRODYSPLASIAS; PELVIS;

EID: 0032810551     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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