Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome"

Human Mutation

Volumn 32, Issue 4, 2011, Pages 484-485

  Janecke, Andreas R ^a   Baenziger, Jacques U ^b   Müller, Thomas ^a   Dündar, Munis ^c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ERCIYES UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

DERMATAN 4 SULFOTRANSFERASE 1; DERMATAN SULFATE DERIVATIVE; UNCLASSIFIED DRUG;

ADDUCTED THUMB CLUBFOOT SYNDROME; BIOSYNTHESIS; BLOOD CLOTTING DISORDER; BRACHYCEPHALY; ECCHYMOSIS; GENE MUTATION; HEMATOMA; HUMAN; HYPERTELORISM; JAW MALFORMATION; KYPHOSCOLIOSIS; LETTER; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; PROMINENT EAR; RETROGNATHIA; WOUND HEALING IMPAIRMENT;

ABNORMALITIES, MULTIPLE; CLUBFOOT; DERMATAN SULFATE; FRAMESHIFT MUTATION; HUMANS; SULFOTRANSFERASES; THUMB;

EID: 79952761601     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21440     Document Type: Letter

References (9)

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