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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes 总被引:25,自引:0,他引:25
Kondo S Schutte BC Richardson RJ Bjork BC Knight AS Watanabe Y Howard E de Lima RL Daack-Hirsch S Sander A McDonald-McGinn DM Zackai EH Lammer EJ Aylsworth AS Ardinger HH Lidral AC Pober BR Moreno L Arcos-Burgos M Valencia C Houdayer C Bahuau M Moretti-Ferreira D Richieri-Costa A Dixon MJ Murray JC 《Nature genetics》2002,32(2):285-289
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Ballif BC Hornor SA Jenkins E Madan-Khetarpal S Surti U Jackson KE Asamoah A Brock PL Gowans GC Conway RL Graham JM Medne L Zackai EH Shaikh TH Geoghegan J Selzer RR Eis PS Bejjani BA Shaffer LG 《Nature genetics》2007,39(9):1071-1073
We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome. 相似文献
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