Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nunthawan NowwaroteThanakorn TheerapanonThanaphum OsathanonPrasit PavasantThantrira PorntaveetusVorasuk ShotelersukPublished in: Oral diseases (2018)
We identified the novel mutation in FAM83H associated with autosomal dominant hypocalcified AI. The FAM83H cells showed reduced cell proliferation and expression of osteogenic markers, suggesting altered PDLCs in FAM83H-associated AI.