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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
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- المؤلفون: Kolanczyk, Mateusz1; Krawitz, Peter2; Hecht, Jochen2; Hupalowska, Anna3; Miaczynska, Marta3; Marschner, Katrin4; Schlack, Claire4; Emmerich, Denise1; Kobus, Karolina4; Kornak, Uwe4; Robinson, Peter N4; Plecko, Barbara5; Grangl, Gernot6; Uhrig, Sabine7; Mundlos, Stefan8; Horn, Denise4
- المصدر:
European Journal of Human Genetics. May2015, Vol. 23 Issue 5, p633-638. 6p.
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