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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Lu H, et al. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530676 Free PMC article.
Characteristics and outcomes of neonates hospitalised with SARS-CoV-2 infection in the UK by variant: a prospective national cohort study.
Gale C, Sharkey D, Fitzpatrick KE, Mactier H, Morelli A, Nakahara M, Hurd M, Placzek A, Knight M, Ladhani SN, Draper ES, Doherty C, Quigley MA, Kurinczuk JJ; Neonatal complications of COVID-19 Collaborative Group. Gale C, et al. Arch Dis Child Fetal Neonatal Ed. 2023 Nov 15:fetalneonatal-2023-326167. doi: 10.1136/archdischild-2023-326167. Online ahead of print. Arch Dis Child Fetal Neonatal Ed. 2023. PMID: 37968087