Associated Papers
[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].
Liang YT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.
Yamashita Y et al.
International Journal of Hematology, 2019
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M et al.
European Journal of Human Genetics : Ejhg, 2015
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Starokadomskyy P et al.
The Journal of Clinical Investigation, 2013
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