Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Human Mutation

Volumn 31, Issue 11, 2010, Pages 1233-1239

  Malfait, Fransiska ^a   Syx, Delfien ^a   Vlummens, Philip ^a   Symoens, Sofie ^a   Nampoothiri, Sheela ^b   Hermanns Lê, Trinh ^c   Van Laer, Lut ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^c UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Adducted thumb clubfoot syndrome; CHST14; Collagen; Dermatan 4 sulfotransferase 1; Ehlers Danlos syndrome type VI

Indexed keywords

COLLAGEN; DERMATAN; DERMATAN 4 SULFOTRANSFERASE 1; PYRIDINOLINE; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ADDUCTED THUMB CLUBFOOT SYNDROME; ARTICLE; CASE REPORT; CHST14 GENE; CLUBFOOT; CONSANGUINITY; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INDIAN; JOINT CONTRACTURE; KYPHOSCOLIOSIS; LOSS OF FUNCTION MUTATION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN MANIFESTATION; WRINKLE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASE SEQUENCE; CHILD; CLUBFOOT; CONSANGUINITY; CONTRACTURE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EHLERS-DANLOS SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; SULFOTRANSFERASES; THUMB; YOUNG ADULT;

EID: 78049440754     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21355     Document Type: Article

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