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
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| Description | scientific article published on 29 April 2011 |
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author: Denise Horn Eva Klopocki Stefan Mundlos Malte Spielmann |
| Publication date | April 29, 2011 |
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