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Tuberous sclerosis,polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation |
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| Authors: | Jaime J. Barea Eline van Meel Stuart Kornfeld Lynne M. Bird |
| Affiliation: | 1. Department of Pediatrics, University of California, San Diego, California;2. Division of Dysmorphology/Genetics, Rady Children's Specialists of San Diego, San Diego, California;3. Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri |
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