Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM.
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Am J Med Genet A. 2007; 143(6): 619-624.
Doi: 10.1002/ajmg.a.31627
(- Case Report)
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- Leading authors Med Uni Graz
- Kroisel Peter
- Schwarzbraun Thomas
- Co-authors Med Uni Graz
- Ofner-Ziegenfuss Lisa
- Petek Erwin
- Wagner Klaus
- Windpassinger Christian
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- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Chromosome Banding - genetics
- Chromosome Deletion - genetics
- Chromosome Mapping - genetics
- Chromosomes, Human, Pair 3 - genetics
- Gene Deletion - genetics
- Genetic Predisposition to Disease - genetics
- Humans - genetics
- Infant - genetics
- Karyotyping - genetics
- Male - genetics
- Microphthalmia-Associated Transcription Factor - genetics
- Microsatellite Repeats - genetics
- Pedigree - genetics
- Pigmentation Disorders - classification
- Waardenburg's Syndrome - classification