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; et al. (Genetics in medicine : official journal of the American College of Medical Genetics, 2025)