American journal of medical genetics. Part A
Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.
Sara Arish, Ramiz Nobakht, Haleh Mokabber, Somayeh Takrim Nojedeh, Sana Davarnia, Shirin Hasanzadeh, Hourieh Kalhor, Behzad Davarnia
Published: 202610.1002/ajmga.70061
Abstract
TBC1 domain-containing kinase (TBCK; MIM #616900) is implicated in autosomal recessive neurodevelopmental disorders with hypotonia and developmental delay. TBCK regulates mTOR signaling, lysosomal activity, and intracellular trafficking, but the full…
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