Clinical utility gene card for: Deletion 22q13 syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2010193.pdf
Reference11 articles.
1. Luciani JJ, de Mas P, Depetris D et al: 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.
2. Wilson HL, Wong AC, Shaw SR et al: Molecular characterisation 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.
3. Cusmano-Ozog K, Manning MA, Hoyme HE : 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 2007; 145C: 393–398.
4. Dhar SU, del Gaudio D, German JR et al: 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A 2010; 152A: 573–581.
5. Phelan MC, Stapleton GA, Rogers RC : Deletion 22q13 syndrome: Phelan-McDermid syndrome; In Cassidy SB and Allanson JA (eds): The Management of Genetic Syndromes, 3rd edn. Wiley-Liss, Inc.: Hoboken, NJ, USA, 2010, pp 285–297.
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1. Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes;American Journal of Medical Genetics Part A;2021-05-05
2. A patient with Phelan‐McDermid syndrome and dilation of the great vessels;Clinical Case Reports;2019-02-17
3. Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the Shank3 gene;2018-03-08
4. Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism;Journal of Clinical Investigation;2017-04-17
5. Phelan–McDermid Syndrome and SHANK3: Implications for Treatment;Neurotherapeutics;2015-04-17
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