| 1 | ANKRD11, DEL16Q243, KBG
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| Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
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| Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.
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| Am J Med Genet A 161(4):835-40. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.
2013
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| 2 | ANKRD11, KBG
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| Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
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| Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P.
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| Am J Med Genet B Neuropsychiatr Genet 162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.
2013
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| 3 | ANKRD11, DEL16Q243, KBG
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| Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
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| Sacharow S, Li D, Fan YS, Tekin M.
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| Am J Med Genet A 158A(3):547-52. doi: 10.1002/ajmg.a.34436. Epub 2012 Feb 3.
2012
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| 4 | ANKRD11, KBG
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| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
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| Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M.
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| Am J Hum Genet 89(2):289-94. Epub 2011 Jul 21.
2011
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