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De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Among authors: padberg gw. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.
Genetic characteristics of myoadenylate deaminase deficiency.
Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: padberg gw. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
van der Zwaag B, Verzijl HT, Wichers KH, Beltran-Valero de Bernabe D, Brunner HG, van Bokhoven H, Padberg GW. van der Zwaag B, et al. Among authors: padberg gw. Pediatr Neurol. 2004 Aug;31(2):114-8. doi: 10.1016/j.pediatrneurol.2004.02.004. Pediatr Neurol. 2004. PMID: 15301830
184 results