@misc{indiciaea094dd8587a0,
  title = {Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.},
  author = {Anneke T Vulto-van Silfhout and Ingrid M Jazet and Suzanne Yzer and Jeroen Pas and Serwet Demirdas and Elisabeth F C van Rossum and Alberta A H J Thiadens and Ronald van Beek and Lonneke Haer-Wigman and Daniela Q C M Barge-Schaapveld and Charlotte Brasch-Andersen and Simon Frost and Miriam Bauwens and Elfride De Baere and Irina Balikova and Filip Van den Broeck and Monika Weisz-Hubshman and Pascal Joset and Peter Miny and Isabel Filges and Susanne Kohl and Pietro De Angeli and Laura K\&\#xfc;hlewein and Jan-Philipp Bodenbender and Tobias Haack and Karin Poths and Lidia Fernandez-Caballero and Marta Corton and Fiona Blanco Kelly and Carmen Ayuso and Peggy Mart\&\#xed;nez-Esteban and John Vissing and Jordi D\&\#xed;az-Manera and Volker Straub and Ana T\&\#xf6;pf and Siying Lin and Gavin Arno and William L Macken and Jennifer Spillane and Radha Ramachandran and Erik de Vrieze and Tjakko van Ham and Susanne Roosing and Machteld M Oud},
  year = {2025},
  doi = {10.1016/j.gim.2025.101513},
  url = {https://pubmed.ncbi.nlm.nih.gov/40590205/},
  note = {Source identifier: 40590205}
}