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Article

TBCK syndrome: a rare multi-organ neurodegenerative disease.

Trends in molecular medicine - 1 Oct 2023

Durham Emily L, Angireddy Rajesh, Black Aaron, Melendez-Perez Ashley, Smith Sarina, Gonzalez Elizabeth M, Navarro Kristen G, Díaz Abdias, Bhoj Elizabeth J K, Katsura Kaitlin A

Abstract excerpt

TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and...

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Identifiers

PMID: 37455236
DOI: 10.1016/j.molmed.2023.06.009
PMCID: PMC10868401

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