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Comment

. 2011 Apr;32(4):484-5.

doi: 10.1002/humu.21440.

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

Andreas R Janecke, Jacques U Baenziger, Thomas Müller, Munis Dündar

PMID: 21309034
DOI: 10.1002/humu.21440

Comment

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

Andreas R Janecke et al. Hum Mutat. 2011 Apr.

. 2011 Apr;32(4):484-5.

doi: 10.1002/humu.21440.

Authors

Andreas R Janecke, Jacques U Baenziger, Thomas Müller, Munis Dündar

PMID: 21309034
DOI: 10.1002/humu.21440

No abstract available

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Comment in

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"?
Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N. Kosho T, et al. Hum Mutat. 2011 Dec;32(12):1507-9. doi: 10.1002/humu.21586. Epub 2011 Sep 30. Hum Mutat. 2011. PMID: 21964831 No abstract available.

Comment on

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
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.
Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A. Malfait F, et al. Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355. Hum Mutat. 2010. PMID: 20842734

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