| 1 | BDNF, DEL2P25, SIM1, TRKB
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| Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
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| D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP.
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| Am J Med Genet A 161(3):479-86. doi: 10.1002/ajmg.a.35761. Epub 2013 Feb 7.
2013
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| 2 | DEL2P25, MYT1L
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| MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
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| Stevens SJ, van Ravenswaaij-Arts CM, Janssen JW, Klein Wassink-Ruiter JS, van Essen AJ, Dijkhuizen T, van Rheenen J, Heuts-Vijgen R, Stegmann AP, Smeets EE, Engelen JJ.
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| Am J Med Genet A 155(11):2739-45. doi: 10.1002/ajmg.a.34274. Epub 2011 Oct 11. 2011
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| 3 | DEL2P25
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| A novel presentation of a rare chromosome 2p25.2 deletion.
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| Becker K, Jaggard C, Horrocks S.
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| Clin Dysmorphol 19(2):101-2. No abstract available. PMID: 20173628 2010
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| 4 | DEL2P25, DUP6P25, DUP6PD
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| An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.
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| Li F, Batista DA, Maumenee I, Wang T.
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| Am J Med Genet A 152A(5):1318-21. No abstract available. PMID: 20425844 2010
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| 5 | DEL2P25, DEL2PO, SOX11
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| Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
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| Lo-Castro A, Giana G, Fichera M, Castiglia L, Grillo L, Musumeci SA, Galasso C, Curatolo P.
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| Eur J Med Genet 52(1):67-70. Epub 2008 Oct 14. 2009
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| 6 | DEL2P25, DUP2P25, DUP2PD
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| Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.
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| Tirado CA, Henderson S, Uddin N, Stewart E, Iyer S, Ratner IM, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R.
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| Am J Med Genet A 149A(11):2507-12. Erratum in: Am J Med Genet A. 2010 Jan;152A(2):537. PMID: 19876903 2009
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| 7 | DEL2P25, DUP2P25
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| A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.
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| Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O.
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| Eur J Hum Genet 17(2):179-86. Epub 2008 Sep 24.PMID: 18813332 2009
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