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Segmental basaloid follicular hamartomas derive from a post-zygotic SMO p.L412F pathogenic variant and express hair follicle development-related proteins in a pattern that distinguish them from basal cell carcinomas.
Atzmony L, Ugwu N, Bercovitch LG, Robinson-Bostom L, Ko CJ, Myung P, Choate KA. Atzmony L, et al. Among authors: bercovitch lg. Am J Med Genet A. 2022 Dec;188(12):3525-3530. doi: 10.1002/ajmg.a.62951. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972041 Free PMC article.
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. Among authors: bercovitch lg. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.