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

Title
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
Authors
Keywords
-
Journal
European Journal of Medical Genetics
Volume 54, Issue 4, Pages e441-e445
Publisher
Elsevier BV
Online
2011-05-01
DOI
10.1016/j.ejmg.2011.04.004

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