Pathogenic variant of DYNC2H1 associated with lingual hamartoma in a Chinese pedigree.
Wenquan ZhaoGuanchen YeQi LiYu ZhouXiaowen YuYining LiMengfei YuHuiming WangPublished in: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology (2022)
The study expanded our knowledge on the clinical and genetic spectrum of lingual hamartoma by identifying causal variants in a Chinese pedigree. DYNC2H1 is likely to participate in tongue development and its pathologic mutation may underlie the etiology of lingual hamartoma.