A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference16 articles.
1. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities;Ballif BC;Am J Hum Genet,2010
2. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region;Schönewolf-Greulich B;Am J Med Genet A,2011
3. A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report;Karolak JA;BMC Med Genomics,2020
4. Small patella syndrome;Kozlowski K;Am J Med Genet,1995
5. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome;Azouz EM;Pediatr Radiol,1997
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