| 1 | ALX4, DEL11PP
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| New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
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| Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A.
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| Brain Sci. Oct 28;10(11):788. doi: 10.3390/brainsci10110788. 2020
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| 2 | DEL11PP, PHF21A
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| A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
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| Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.
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| Am J Med Genet A 161(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.
2013
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| 3 | DEL11PP, PHF21A
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| Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies.
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| Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, Macdonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.
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| Am J Hum Genet 91(1):56-72. Epub 2012 Jul 5.
2012
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| 4 | DEL11PP
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| Potocki-Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management.
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| Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L.
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| Am J Med Genet A 152A(3):565-72.PMID: 20140962 2010
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| 5 | ALX4, DEL11PP, EXT2
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| Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.
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| Romeike BF, Wuyts W.
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| Clin Neuropathol 26(1):1-11. Review. 2007
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| 6 | ALX4, DEL11PP, MSX2, PFM1, PFM2
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| Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
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| Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO.
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| Eur J Hum Genet 14(2):151-8. 2006
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| 7 | DEL11PP
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| Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
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| Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.
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| Am J Med Genet A 133A(2):180-3. 2005
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| 8 | ALX4, DEL11PP, EXT2
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| Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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| Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.
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| Eur J Hum Genet 13(5):528-40. 2005
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| 9 | ALX4, DEL11PP, EXT2
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| Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
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| Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O.
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| Eur J Hum Genet 12(5):400-6. Review. 2004
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| 10 | ALX4, DEL11PP, EXT2
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| Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
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| Hall CR, Wu Y, Shaffer LG, Hecht JT.
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| Clin Genet 60 : 356-359. 2001
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| 11 | ALX4, DEL11PP
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| Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
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| Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO.
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| Nat Genet 27(1):17-8. 2001
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| 12 | ALX4, DEL11PP, PFM1
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| The ALX4 homeobox gene is mutated in patients with ossification defects of the skull.
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| Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.
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| J Med Genet 37(12):916-20. 2000
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| 13 | ALX4, DEL11PP, PFM1
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| Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
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| Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.
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| Am J Hum Genet 67(5):1327-32. 2000
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| 14 | DEL11PP
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| Molecular and clinical examination of an Italian DEFECT11 family.
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| Wuyts W, et al.
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| Eur J Hum Genet 7(5):579-84. 1999
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| 15 | DEL11PP, EXT2
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| Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.
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| Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA.
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| Am J med Genet 75(5):538-40. 1998
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| 16 | DEL11PP, EXT2, PFM1
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| Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11.
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| Bartsch O, et al.
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| Am J Hum Genet 58 : 734-742. 1996
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| 17 | DEL11PP
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| Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
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| Potocki L, Shaffer LG.
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| Am J Med Genet 62(3):319-25. Review. 1996
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| 18 | DEL11PP
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| Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
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| Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ.
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| Am J Hum Genet 58(4):734-42. 1996
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| 19 | DEL11PP, PFM1
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| Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
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| Shaffer LG, et al.
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| Am J Med Genet 45 : 581-583. 1993
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