Article
Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only.
Oral diseases - 1 May 2023
Huang Wenbin, He Qing, Li Mingzhao, Ding Yi, Liang Wei, Li Weiran, Lin Jiuxiang, Zhao Huaxiang, Chen Feng
Abstract excerpt
OBJECTIVES: Non-syndromic cleft palate only (NSCPO) is one of the most common craniofacial birth defects with largely undetermined genetic etiology. It has been established that Grainyhead-like 3 (GRHL3) plays an essential role in the pathogenesis of NSCPO. This study aimed to identify and verify the first-reported GRHL3 variant underlying NSCPO among the Chinese cohort. METHODS: We performed whole-exome...
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