Missense variant in CCDC22 causes X-linked recessive...

European Journal of Human Genetics 2015 / 5 Vol. 23; Iss. 5

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, B
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Volume:
23
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2014.278
Date:
May, 2015
File:
PDF, 59 KB
english, 2015
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