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A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family |
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| Authors: | K. Nikopoulos G. U. Butt P. Farinelli M. Mudassar E. Domènech‐Estévez C. Samara M. Kausar I. Masroor R. Chrast C. Rivolta S. Siddiqi |
| Affiliation: | 1. Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland;2. Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan;3. Department of Neuroscience, Karolinska Institute, Stockholm, Sweden;4. Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden;5. Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan |
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