Deletion 22q13.3 syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-3-14.pdf
Reference19 articles.
1. Wilson HL, Wong AAC, Shaw SR, Tse W-Y, Stapleton GA, Phelan MC, Hu S, Marshall H, McDermid HE: Molecular characterization of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 2003, 40: 575-584. 10.1136/jmg.40.8.575.
2. Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O: Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet. 2001, 69: 261-268. 10.1086/321293.
3. Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Phillipe A, Bourrouillou G, de Marginville B, Delobel B, Vallee L, Croquette MF, Mattei MG: Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 2003, 40: 690-696. 10.1136/jmg.40.9.690.
4. Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG: Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet. 2003, 64: 310-316. 10.1034/j.1399-0004.2003.00126.x.
5. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL: Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006, 43: 478-489. 10.1136/jmg.2005.036350.
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