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Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome |
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| Authors: | RK Özgül N Narin M Dündar JK Naggert |
| Affiliation: | 1. Department of Pediatrics, Hacettepe University, Metabolism Unit, Ankara, Turkey;2. Department of Pediatric Cardiology, Erciyes University, Kayseri, Turkey;3. Department of Medical Genetics, Erciyes University, Kayseri, Turkey;4. The Jackson Laboratory, Bar Harbor, ME, USA |
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