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Article

Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.

Journal of investigative medicine high impact case reports - 1 Jan 2000

Romero-Ibarguengoitia Maria Elena, Cantú-Reyna Consuelo, Gutierrez-González Dalia, Cruz-Camino Héctor, González-Cantú Arnulfo, Sanz Sánchez Miguel Angel

Abstract excerpt

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient...

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Identifiers

PMID: 32924626
DOI: 10.1177/2324709620957777
PMCID: PMC7493228

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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