טוען...
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
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 an unbalanced segregation of the parental balanced translocation of 17p with other chromo...
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| Main Authors: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
The Korean Society for Laboratory Medicine
2011
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3111033/ https://ncbi.nlm.nih.gov/pubmed/21239872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/kjlm.2011.31.1.49 |
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