A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1507-1509

  Kosho, Tomoki ^a   Miyake, Noriko ^b   Mizumoto, Shuji ^c   Hatamochi, Atsushi ^d   Fukushima, Yoshimitsu ^a   Yamada, Shuhei ^c   Sugahara, Kazuyuki ^c   Matsumoto, Naomichi ^b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DERMATAN 4 SULFOTRANSFERASE 1; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

BLEEDING TENDENCY; EHLERS DANLOS SYNDROME; EYE DISEASE; GENE MUTATION; HUMAN; JOINT DISLOCATION; JOINT HYPERMOBILITY; JOINT LAXITY; LETTER; PRIORITY JOURNAL; SKIN FRAGILITY;

DERMATAN SULFATE; HUMANS; SULFOTRANSFERASES;

EID: 81255210142     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21586     Document Type: Letter

References (22)

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