A Novel FAM111A Frameshift Variant Associated With Osteoclast Necroptosis and KCS2-like Syndrome.
Ping Wu, Xue Li, Li Peng et al.
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From the abstract
Kenny-Caffey syndrome type II (KCS2) is a rare genetic disorder characterized by skeletal abnormalities, impaired growth, and developmental delay. This study investigates a novel heterozygous FAM111A variant's role in a patient presenting with KCS2-like features.