Cryptic Del/dup Aberration of 60.6 Mb at 5Q15-5Q23.3 Predicting Adult-Onset Leukodystrophy.
European Journal of Medical Genetics（2012）
关键词
5q15-5q21.3 microdeletion,5q21.3-5q23.3 microduplication,ACC,Intellectual disability,ICSI,ADLD,Lamin B1,Counseling,Predictive diagnosis,Ethics
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