| 1 | DEL17Q23, TBX4
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| Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot.
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| Lu W, Bacino CA, Richards BS, Alvarez C, Vandermeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.
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| Am J Med Genet A 158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.
2012
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| 2 | DEL17Q23, TBX2, TBX4
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| Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.
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| Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA.
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| Am J Med Genet A 155(2):418-23. doi: 10.1002/ajmg.a.33827. Epub 2011 Jan 13.PMID: 21271665 2011
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| 3 | DEL17Q23, TBX2, TBX4
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| Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
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| Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z.
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| Am J Med Genet A 155(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3.
2011
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| 4 | DEL17Q23, TBX2, TBX4
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| Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
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| Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.
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| Am J Hum Genet 86(3):454-61. Epub 2010 Mar 4.PMID: 20206336 2010
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| 5 | DEL17q23, DUP17QO, TBX4
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| Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
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| Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.
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| Am J Hum Genet 87(1):154-60.PMID: 20598276 2010
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