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

Kolanczyk, MateuszMateuszKolanczykKrawitz, PeterPeterKrawitzHecht, JochenJochenHechtHupalowska, AnnaAnnaHupalowskaMiaczynska, MartaMartaMiaczynskaMarschner, KatrinKatrinMarschnerSchlack, ClaireClaireSchlackEmmerich, DeniseDeniseEmmerichKobus, KarolinaKarolinaKobusKornak, UweUweKornakRobinson, Peter NPeter NRobinsonPlecko, BarbaraBarbaraPleckoGrangl, GernotGernotGranglUhrig, SabineSabineUhrigMundlos, StefanStefanMundlosHorn, DeniseDeniseHorn2020-06-232020-06-232015-05https://resolver.sub.uni-goettingen.de/purl?gro-2/66680enMissense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromejournal_article10.1038/ejhg.2014.27825880334