New Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference9 articles.
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2. Defining the clinical spectrum of deletion 22q11.2;Robin NH;J Pediatr,2005
3. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases;Vaz SO;BMC Pediatr,2015
4. Microduplication and triplication of 22q11.2: a highly variable syndrome;Yobb TM;Am J Hum Genet,2005
5. PAX6 expression in the developing human eye;Nishina S;Br J Ophthalmol,1999
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