(Q50801766)
Statements
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. (English)
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Stefan Mundlos
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Denise Horn
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Gabriele Reichelt
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Christoph Hertzberg
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Marc Trimborn
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29 April 2011
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54
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4
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e441-5
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