Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects_Repetto G.pdf (2.21 MB)

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2020-01

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Article

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Artículos Medicina y Ciencias de la Salud

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American Society of Human Genetics by Elsevier Inc.

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https://doi.org/10.1016/j.ajhg.2019.11.010.
 http://hdl.handle.net/11447/3428

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Abstract

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletio...

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Centro de Genética y Genómica

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Citation

Zhao Y, Diacou A, Johnston HR, et al. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. Am J Hum Genet. 2020;106(1):26-40. doi:10.1016/j.ajhg.2019.11.010

Keywords

CRKL , DiGeorge syndrome , TBX1 , Cchromosome 22q11.2 deletion syndrome , Complex trait , Congenital heart disease , Conotruncal heart defects , Copy number variation , Genetic association , Genetic modifier , Haploinsufficiency

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