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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
- Source :
- American Journal of Human Genetics. May, 2008, Vol. 82 Issue 5, p1165, 6 p.
- Publication Year :
- 2008
-
Abstract
- The truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with parental onset of microcephaly, feeding problems and febrile epilepsy is examined. The analysis proves that the truncating motions of DYRK1A lead to clinical phenotype including microcephaly.
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 82
- Issue :
- 5
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.179632364