Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions
Author:
Affiliation:
1. Munroe-Meyer Institute for Genetics and Rehabilitation; University of Nebraska Medical Center; Omaha, Nebraska
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35951/fullpdf
Reference40 articles.
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3. Screening for copy number variation in genes associated with the long QT syndrome: Clinical relevance;Barc;J Am Coll Cardiol,2011
4. Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome;Bisgaard;Am J Med Genet Part A,2006
5. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis;Blair;Hum Mol Genet,2001
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