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

✍ Scribed by Malte Spielmann; Gabriele Reichelt; Christoph Hertzberg; Marc Trimborn; Stefan Mundlos; Denise Horn; Eva Klopocki

• Book ID: 116433390
• Publisher: Elsevier Science
• Year: 2011
• Tongue: English
• Weight: 607 KB
• Volume: 54
• Category: Article
• ISSN: 1769-7212
• DOI: 10.1016/j.ejmg.2011.04.004