Article

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia

2025-11-24

Abstract excerpt

SPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in SPECC1L cause a syndrome characterized by craniofrontonasal anomalies including broad nasal bridge, ocular hypertelorism, prominent forehead, and cleft lip/palate. Complete loss of SPECC1L in mice on a homogenous genetic background resu...

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Literature Corpus work: 5ce6e8e5-182a-5643-9474-00b760aff1b4
DOI: 10.1101/2025.11.21.689834

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