These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
14. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. Shaheen R; Al Tala S; Almoisheer A; Alkuraya FS J Med Genet; 2014 Dec; 51(12):814-6. PubMed ID: 25320347 [TBL] [Abstract][Full Text] [Related]
15. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling. Perge K; Capel E; Villanueva C; Gautheron J; Diallo S; Auclair M; Rondeau S; Morichon R; Brioude F; Jéru I; Rossi M; Nicolino M; Vigouroux C Eur J Endocrinol; 2024 Feb; 190(2):151-164. PubMed ID: 38245004 [TBL] [Abstract][Full Text] [Related]