Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
Kolanczyk M, et al. Among authors: miaczynska m.
Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278.
Eur J Hum Genet. 2015.
PMID: 25880334
Free PMC article.
No abstract available.