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Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus |
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| Authors: | E K Bijlsma A C Knegt C M Bilardo F R Goodman |
| Institution: | 1. Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;2. Department of Obstetrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;3. Molecular Medicine Unit, Institute of Child Health, London, UK |
| Abstract: | |
| Keywords: | Split-hand/foot malformation nuchal translucency 2q deletion SHFM5 HOXD cluster |