Interstitial Deletion Del(17) (q21.3q23 or 24.2) Syndrome
Overview
Affiliations
Pang X, Luo H, Chai Y, Wang X, Sun L, He L PLoS One. 2015; 10(3):e0120816.
PMID: 25815513 PMC: 4376726. DOI: 10.1371/journal.pone.0120816.
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T, Lundin J, Anderlid B, Gorski J, Grigelioniene G, Knight S Eur J Hum Genet. 2013; 21(10):1085-92.
PMID: 23361222 PMC: 3778344. DOI: 10.1038/ejhg.2012.306.
Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A Eur J Hum Genet. 2011; 20(5):534-9.
PMID: 22166941 PMC: 3330218. DOI: 10.1038/ejhg.2011.239.
Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
Murphy A, Li Y, Pietsch J, Chiang C, Lovvorn 3rd H Pediatr Surg Int. 2011; 28(4):335-40.
PMID: 22083168 PMC: 4148071. DOI: 10.1007/s00383-011-3022-1.
A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.
Yu Y, Morishima M, Pao A, Wang D, Wen X, Baldini A Genetics. 2006; 173(1):297-307.
PMID: 16489219 PMC: 1461454. DOI: 10.1534/genetics.105.054833.