Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
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Tuz K, et al. Among authors: ishak ge.
Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19.
Am J Hum Genet. 2014.
PMID: 24360808
Free PMC article.