Literature DB >> 11666007

A case with adducted thumb and club foot syndrome.

M Dundar, S Kurtoglu, B Elmas, F Demiryilmaz, Z Candemir, Y Ozkul, A C Durak.   

Abstract

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Year:  2001        PMID： 11666007     DOI： 10.1097/00019605-200110000-00012

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

1.  The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Authors:  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
Journal:  Am J Med Genet A       Date:  2015-09-16       Impact factor: 2.802

2.  Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Authors:  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
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

3.  Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Authors:  Charlotte K Lautrup; Keng W Teik; Ai Unzaki; Shuji Mizumoto; Delfien Syx; Heng H Sin; Irene K Nielsen; Sara Markholt; Shuhei Yamada; Fransiska Malfait; Naomichi Matsumoto; Noriko Miyake; Tomoki Kosho
Journal:  Mol Genet Genomic Med       Date:  2020-03-04       Impact factor: 2.183

Review 4.  Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Authors:  Tomoki Kosho; Shuji Mizumoto; Takafumi Watanabe; Takahiro Yoshizawa; Noriko Miyake; Shuhei Yamada
Journal:  Genes (Basel)       Date:  2019-12-29       Impact factor: 4.096
  4 in total

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