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Items: 3

Select item 51156381.

The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations

Andreas R. Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann

Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 18.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 103–115. Published online 2015 Sep 16. doi: 10.1002/ajmg.a.37383

PMCID:: PMC5115638

Abstract Article PDF–3.3M

Select item 27905732.

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke

Am J Hum Genet. 2009 Dec 11; 85(6): 873–882. doi: 10.1016/j.ajhg.2009.11.010