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Article

Individual with Homozygous TECR Variant Expands Upon the Existing Phenotype for a Hutterite Founder Mutation.

South Dakota medicine : the journal of the South Dakota State Medical Association - 1 Apr 2022

Platt Dylan, Davis-Keppen Laura

Abstract excerpt

Intellectual disability (ID) is ubiquitous across nations affecting roughly 1 percent of the world's population. Improvements in genetic testing methodologies have led to increased understanding about the etiology of ID. However, many cases remain idiopathic. We describe the first individual outside of an existing sibship with a homozygous TECR variant; c.545C>T. Similar to the previously described sibship, this...

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PMID: 35709344

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