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Trends Mol Med
; 29(10): 783-785, 2023 10.
Article
in English
| MEDLINE
| ID: mdl-37455236
ABSTRACT
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 therapeutic development.