Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
Victor Murcia Pienkowski,Marzena Kucharczyk,Malgorzata Rydzanicz,Barbara Poszewiecka,Katarzyna Pachota,Marlena Mlynek,Piotr Stawinski,Agnieszka Pollak,Joanna Kosinska,Katarzyna Wojciechowska,Monika Lejman,Agata Cieslikowska,Dorota Wicher,Agnieszka Stembalska,Karolina Matuszewska,Anna Materna-Kiryluk,Anna Gambin,Krystyna Chrzanowska,Malgorzata Krajewska-Walasek,Rafal Ploski Journal of Clinical Medicine（2020）
关键词
EPHA6,KLF13,UBR3,de novo balanced aberrations,mate-pair sequencing,developmental delay
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