Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
Author:
Funder
Marguerite-Marie Delacroix Foundation
Jérôme Lejeune Foundation
University of Antwerp
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference14 articles.
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2. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms;Beunders;J. Med. Genet.,2010
3. Refining analyses of copy number variation identifies specific genes associated with developmental delay;Coe;Nat. Genet.,2014
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5. Accurate and objective copy number profiling using real-time quantitative PCR;D'Haene;Methods,2010
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