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

Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterized by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects....

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Autores principales: Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2790573/
https://ncbi.nlm.nih.gov/pubmed/20004762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.11.010
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