Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Meins, M; Burfeind, P; Motsch, S; Trappe, R; Bartmus, D; Langer, S; Speicher, MR; Mühlendyck, H; Bartels, I; Zoll, B.
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
J Med Genet. 2003; 40(5):e62-e62
Doi: 10.1136/jmg.40.5.e62
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Speicher Michael
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- Abnormalities, Multiple - genetics
- Chromosomes, Human, Pair 22 - genetics
- Eye Abnormalities - genetics
- Gene Duplication - genetics
- Humans - genetics
- Infant - genetics
- Infant, Newborn - genetics
- Male - genetics
- Phenotype - genetics
- Syndrome - genetics
- Trisomy - genetics