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Journal of Clinical Pediatrics ; (12): 53-56, 2018.
Article in Chinese | WPRIM | ID: wpr-694639

ABSTRACT

Objective To summarize the clinical features and genetic diagnosis of Kabuki syndrome. Methods The clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. Results Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion Children with clinically suspected Kabuki syndrome can be confirmed by gene detection.

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