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10 1093@hmg@ddaa002 by Kim Chi Nguyễn is a document available to read on EtoBox.
The study investigates the role of SPECC1L in palate development and its relationship with IRF6, highlighting that mutations in SPECC1L are associated with orofacial clefts. Using mouse models, the researchers found that reduced SPECC1L function leads to palate elevation defects and abnormal periderm formation, which are critical for proper palatogenesis. Additionally, the study identified rare SPECC1L variants in non-syndromic cleft lip and/or palate patients, suggesting its involvement in a broader geneti
- Author
- Kim Chi Nguyễn
- Language
- EN