Article

The Rogdi Knockout Mouse is a Model for Kohlschütter–Tönz Syndrome

2023-08-15

Abstract excerpt

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Loss of ROGDI expression likely produces these severe patient defects. Here, we present a novel Rogdi mutant mouse demonstrating that Rogdi -/- loss of function recapitulates most KTS patient symptoms. Mutants displayed pronounced pent...

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Literature Corpus work: 6be45b8e-153f-582d-ae8e-b2f2b501e234
DOI: 10.21203/rs.3.rs-3199052/v1

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