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Individuals with ARTHS present with developmental delay, cognitive impairment (100% penetrance), delay or absence of speech (100%), facial dysmorphism (85%), feeding difficulties (78%), and neonatal hypotonia (76%) in a study of 76 individuals with KAT6A mutations (Kennedy et al, 2019)
Interfaces 12 , 4829648309 (2020)
These alterations are theorized to contribute to an extended half-life and heightened biological activity compared to endogenous IGF-1
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