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Okur‐Chung Neurodevelopmental Syndrome: Eight Additional Cases with Implications on Phenotype and Genotype Expansion

A. T. G. Chiu,S. L. C. Pei,C. C. Y. Mak,G. K. C. Leung,M. H. C. Yu,S. L. Lee,M. Vreeburg,R. Pfundt,I. van der Burgt,T. Kleefstra, T. M. -T. Frederic,S. Nambot,L. Faivre,A. -L. Bruel,M. Rossi,B. Isidor,S. Kury,B. Cogne,T. Besnard,M. Willems,M. R. F. Reijnders,B. H. Y. Chung

Clinical genetics（2018）

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关键词
CSNK2A1,developmental delay,Okur-Chung syndrome,whole exome sequencing
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