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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）

Cited 26|Views53
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Key words
CSNK2A1,developmental delay,Okur-Chung syndrome,whole exome sequencing
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