Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity
Abstract
Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were...
Paper Details
Title
Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity
Published Date
Nov 27, 2012
Journal
Volume
34
Issue
2
Pages
296 - 300
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