Article

A novel FAM111A frameshift variant associated with osteoclast necroptosis and KCS2-like syndrome

2025-09-15

Abstract excerpt

<title>Abstract</title> <p> <italic> <bold>Background</bold> </italic> <italic>:</italic> 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. <italic> <bold>Methods</bold> </italic> <italic>:</it...

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Identifiers and source

Literature Corpus work: 9986545c-a2bd-5974-b9d5-8b4e84fc1c3d
DOI: 10.21203/rs.3.rs-7188681/v1

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