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 Synd-Reference-Cited by-同舟云学术

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 Synd

Published:2011-09-30 Issue:12 Volume:32 Page:1507-1509
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kosho Tomoki,Miyake Noriko,Mizumoto Shuji,Hatamochi Atsushi,Fukushima Yoshimitsu,Yamada Shuhei,Sugahara Kazuyuki,Matsumoto Naomichi

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

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2. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997;Beighton;Am J Med Genet,1998

3. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins;Dündar;Clin Genet,1997

4. A case with adducted thumb and club foot syndrome;Dündar;Clin Dysmorphol,2001

5. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome;Dündar;Am J Hum Genet,2009

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3. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14);Journal of Medical Genetics;2021-11-23

4. Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation;Frontiers in Cell and Developmental Biology;2021-10-11

5. Systematic investigation of the skin in Chst14−/− mice: A model for skin fragility in musculocontractural Ehlers–Danlos syndrome caused by CHST14 variants (mcEDS-CHST14);Glycobiology;2020-06-27