Article

Pathogenic Variants in SHROOM3 Associated with Hemifacial Microsomia

2023-08-07

Abstract excerpt

<h4>Purpose: </h4> Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital features. However, known causal genes only account for approximately 3% of patients, indicating the need to discover more pathogenic genes. <h4>Methods: </h4>: We performed target capture sequencing on SHROOM3 in 320 Chinese HFM patients and evaluated the expression patt...

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Literature Corpus work: 42b3dbe1-7127-5ea0-80fe-8fec458286e2
DOI: 10.21203/rs.3.rs-3204615/v1

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