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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: rodd hd. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.
Leukaemic infiltration of the mandible in a young girl.
Benson RE, Rodd HD, North S, Loescher AR, Farthing PM, Payne M. Benson RE, et al. Int J Paediatr Dent. 2007 Mar;17(2):145-50. doi: 10.1111/j.1365-263X.2006.00794.x. Int J Paediatr Dent. 2007. PMID: 17263867
122 results