- Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
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Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
- KMID: 1096661
- Korean J Lab Med.
- 2011 Jan;31(1):49-53.
- doi: 10.3343/kjlm.2011.31.1.49
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by... -
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