Aigner, L. and Uyanik, G. and Couillard-Despres, S. and Ploetz, S. and Wolff, G. and Morris-Rosendahl, D. and Martin, P. and Eckel, U. and Spranger, S. and Otte, J. and Woerle, H. and Holthausen, H. and Apheshiotis, N. and Fluegel, D. and Winkler, Juergen (2003) Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. NEUROLOGY, 60 (2). pp. 329-332. ISSN 0028-3878
Full text not available from this repository. (Request a copy)Abstract
X-linked isolated lissencephaly sequence (XLIS) and subcortical band heterotopia (SBH) are allelic disorders caused by mutations in the doublecortin (DCX) gene. This genetic analysis of seven families revealed four novel mutations in the DCX gene. The authors detected a high rate of somatic mosaicism in male and female patients with variable penetrance of bilateral SBH including nonpenetrance in a heterozygous woman. In addition, the authors implemented prenatal diagnosis in a family with SBH/XLIS.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DOUBLE-CORTEX SYNDROME; SUBCORTICAL BAND HETEROTOPIA; GENE; MUTATION; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 20 Sep 2021 12:56 |
| Last Modified: | 20 Sep 2021 12:56 |
| URI: | https://pred.uni-regensburg.de/id/eprint/39348 |
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