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Mll2 Mutation Detection in 86 Patients with Kabuki Syndrome: A Genotype-Phenotype Study

P. Makrythanasis,B. W. van Bon,M. Steehouwer,B. Rodriguez-Santiago,M. Simpson,P. Dias,B. M. Anderlid,P. Arts,M. Bhat,B. Augello,E. Biamino,E. M. H. F. Bongers,M. del Campo,I. Cordeiro,A. M. Cueto-Gonzalez,I. Cusco,C. Deshpande,E. Frysira,L. Izatt,R. Flores,E. Galan,B. Gener,C. Gilissen,S. M. Granneman,J. Hoyer,H. G. Yntema,C. M. Kets,D. A. Koolen,C. L. Marcelis,A. Medeira,L. Micale,S. Mohammed,S. A. de Munnik,A. Nordgren,S. Psoni,W. Reardon,N. Revencu,T. Roscioli,M. Ruiterkamp-Versteeg,H. G. Santos,J. Schoumans,J. H. M. Schuurs-Hoeijmakers,M. C. Silengo,L. Toledo,T. Vendrell,I. van der Burgt,B. van Lier,C. Zweier,A. Reymond,R. C. Trembath,L. Perez-Jurado,J. Dupont,B. B. A. de Vries,H. G. Brunner,J. A. Veltman,G. Merla,S. E. Antonarakis,A. Hoischen

Clinical Genetics（2013）

Cited 96|Views38
Key words
genotype-phenotype correlation,Kabuki syndrome,MLL2,Niikawa-Kuroki syndrome
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