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Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome |
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| Authors: | Pilar L. Magoulas Pengfei Liu Violet Gelowani Claudia Soler‐Alfonso Emma C. Kivuva James R. Lupski Lorraine Potocki |
| Affiliation: | 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Texas Children's Hospital, Houston, Texas;3. Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, Texas;4. Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom;5. Department of Pediatrics, Baylor College of Medicine, Houston, Texas |
| Abstract: | |
| Keywords: | Potocki– Lupski syndrome PTLS RAI1 microduplication syndrome dosage sensitivity |