Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results...
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illness syndrome Postperfusion syndrome Postpericardiotomy syndrome Postural orthostatic tachycardia syndrome Potocki–Lupski syndrome Potocki–Shaffer syndrome...
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hypoplasia Potocki-Shaffer syndrome RAB23-related Carpenter syndrome Radial aplasia-thrombocytopenia syndrome Renpenning syndrome Ritscher-Schinzel syndrome Saethre-Chotzen...
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Turricephaly (redirect from High-head syndrome)
atrophy Peroxisome biogenesis disorder 2A (Zellweger) Potocki-Shaffer syndrome Saethre-Chotzen syndrome Spondyloenchondrodysplasia with immune dysregulation...
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credited with the discovery of two genetic syndromes, Potocki-Lupski syndrome and Potocki-Shaffer syndrome. Potocki, Lorraine; Chen, KS; Park, SS; Osterholm...
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Charcot-Marie-Tooth disease Potocki-Lupski syndrome Prader-Willi syndrome Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt...
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a family who care for their disabled grandson who suffers from Potocki-Shaffer Syndrome. Discretionary Housing Payment "Supreme Court to decide on 'unlawful'...
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Pediatric oncologist. Lorraine Potocki, PhD — Medical geneticist. Co discoverer, Potocki-Lupski syndrome and Potocki-Shaffer syndrome Michael J. Reardon, MD —...
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Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K; Lupski, JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
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Percivall Pott Potocki–Lupski syndrome – Lorraine Potocki, James R. Lupski Potocki–Shaffer syndrome – Lorraine Potocki, Lisa G. Shaffer Potter sequence – Edith...
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Nestor-Guillermo progeria syndrome Niemann–Pick disease nonsyndromic deafness porphyria Potocki–Shaffer syndrome Romano–Ward syndrome Sickle cell anemia Smith–Lemli–Opitz...
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List of conditions with craniosynostosis (category Syndromes affecting head size)
"Potocki-Shaffer syndrome (Concept Id: C1832588)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05. "Progeroid and marfanoid aspect-lipodystrophy syndrome (Concept...
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deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome". European Journal of Human Genetics. 13 (5): 528–40. doi:10.1038/sj...
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Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
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Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
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K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
9 KB (1,050 words) - 18:26, 27 February 2024
Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
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Times. Archived from the original on June 4, 2009. Retrieved May 23, 2009. Potocki, P. Joseph (August 27, 2008). "Down the 9-11 Rabbit Hole". Bohemian. Archived...
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Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion...
19 KB (2,332 words) - 02:16, 3 December 2023