An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient
Autor: | Thomas Liehr, Heike Nelle, Peter Burfeind, EA Alsat, Franco Laccone, C Thiels, Gabriela Salinas-Riester, Bernd Auber, Moneef Shoukier, Iris Bartels |
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Rok vydání: | 2010 |
Předmět: |
Genetics
0303 health sciences 030305 genetics & heredity Chromosomal translocation Rett syndrome Biology medicine.disease Phenotype Xq28 Central nervous system disease 03 medical and health sciences Degenerative disease Female patient Gene duplication medicine Genetics (clinical) 030304 developmental biology |
Zdroj: | Clinical Genetics. 77:593-597 |
ISSN: | 0009-9163 |
DOI: | 10.1111/j.1399-0004.2009.01363.x |
Databáze: | OpenAIRE |
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