MKS1-Related Disorders

MedGen UID:: 893475
•Concept ID:: CN239382
•: Disease or Syndrome

Recent clinical studies

Diagnosis

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D
J Med Genet 2016 Jan;53(1):62-72. Epub 2015 Oct 21 doi: 10.1136/jmedgenet-2015-103250. PMID: 26490104 Free PMC Article

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Supplemental Content

Clinical resources

ClinicalTrials.gov

Practice guidelines

Bookshelf
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