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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Kelly FB, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM. Vulto-van Silfhout AT, et al. Among authors: lin s. Genet Med. 2025 Jun 28:101513. doi: 10.1016/j.gim.2025.101513. Online ahead of print. Genet Med. 2025. PMID: 40590205
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