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Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Dudakova L, Tuft S, Cheong SS, Skalicka P, Jedlickova J, Fichtl M, Hlozanek M, Filous A, Vaneckova M, Vincent AL, Hardcastle AJ, Davidson AE, Liskova P. Dudakova L, et al. Acta Ophthalmol. 2022 Jun;100(4):431-439. doi: 10.1111/aos.15022. Epub 2021 Oct 13. Acta Ophthalmol. 2022. PMID: 34644435 Free article.
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.