Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Ummey Hany Christopher Mark WatsonLu LiuClaire E L SmithAsmaa HarfoushJames A PoulterGeorgios NikolopoulosRichard BalmerCatriona J BrownAnesha PatelJenny SimmondsRuth CharltonMaría Gabriela Acosta de CamargoHelen D RoddHussain JafriAgne AntanaviciuteMichelle MoffatMaisoon Al-JawadChris F InglehearnAlan J Mighell

Published in: Journal of medical genetics (2023)

variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care.

Keyphrases

copy number
quality improvement
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early onset
pain management
gene expression
risk assessment
dna methylation
affordable care act
genome wide
climate change