Article

A heterozygous nonsense variant in FGF8 causes autosomal dominant cleft lip and palate by impairing ERK–ETV4 signaling

2026-05-20

Abstract excerpt

<title>Abstract</title> <p> Cleft lip and palate is a common craniofacial malformation, but the genetic basis of many familial cases remains unresolved. Here, we investigated a three-generation Chinese family with autosomal dominant cleft lip and palate and identified a heterozygous nonsense variant in <italic>FGF8</italic> (NM_033163.5:c.533G > A, p.(Trp178Ter); ClinVar accession SCV007520554). The variant wa...

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Literature Corpus work: 1e7ec15f-7a29-5254-b777-ca6faf6c0f64
DOI: 10.21203/rs.3.rs-9623523/v1

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