Spondyloepiphyseal dysplasia, omani type: Further definition of the phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 18, 2008, Pages 2376-2384

  Van Roij, Mirjam H H ^a   Mizumoto, Shuji ^b   Yamada, Shuhei ^b   Morgan, Tim ^c   Tan Sindhunata, M B ^a   Meijers Heijboer, H ^a   Verbeke, J I L M ^a   Markie, David ^c   Sugahara, Kazuyuki ^b   Robertson, Stephen P ^c  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HOKKAIDO UNIVERSITY   (Japan)

^c UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Chondroitin 6 O sulfotransferase 1; CHST3; Spondyloepiphyseal dysplasia

Indexed keywords

CHONDROITIN 6 O SULFOTRANSFERASE 1; CHONDROITIN SULFATE; N ACETYLGALACTOSAMINE; PROTEOGLYCAN; SULFOTRANSFERASE; UNCLASSIFIED DRUG; CARBOHYDRATE SULFOTRANSFERASES; DISACCHARIDE;

ANIMAL CELL; ARTICLE; CARPAL BONE; CASE REPORT; CHILD; CHST3 GENE; CLUBFOOT; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY; FEMALE; FIBROBLAST; GENE; GENE MUTATION; HEARING IMPAIRMENT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; JOINT DISLOCATION; METACARPAL BONE; NONHUMAN; OSSIFICATION; PATHOGENICITY; PHENOTYPE; POPULATION; PREDICTION; PRIORITY JOURNAL; SPECTRUM; SPONDYLOEPIPHYSEAL DYSPLASIA; SULFATION; TURKEY (REPUBLIC); URINE; AMINO ACID SUBSTITUTION; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; CONSANGUINITY; ENZYMOLOGY; GENETICS; MOLECULAR CLONING; OMAN; PEDIGREE; POINT MUTATION; PRESCHOOL CHILD; RADIOGRAPHY; SPINE;

AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; CONSANGUINITY; DISACCHARIDES; FEMALE; FIBROBLASTS; HUMANS; OMAN; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; POINT MUTATION; SPINE; SULFOTRANSFERASES;

EID: 51449093051     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32482     Document Type: Article

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