Niikawa N , Matsuura N , Fukushima Y , et al . Kabuki make-up syndrome:a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency [J ] . J Pediatr , 1981 , 99 ( 4 ) : 565 - 569 .

Wang YR , Xu NX , Wang J , et al . Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms [J ] . World J Pediatr , 2019 , 15 ( 6 ): 528 - 535 .

White SM , Thompson EM , Kidd A , et al . Growth, behavior, and clinical findings in 27 patients with Kabuki syndrome [J ] . Am J Med Genet , 2004 , 127 ( 2 ) : 118 - 127 .

Matsumoto N , Niikawa N . Kabuki make-up syndrome:a review [J ] . Am J Med Genet C Semin Med Genet , 2003 , 117 C ( 1 ) : 57 - 65 .

Richards S , Aziz N , Bale S , et al . Standards and guidelines for the interPretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J ] . Genet Med , 2015 , 17 ( 5 ): 405 - 424 .

Adam MP , Hudgins L , Hannibal M . Kabuki Syndrome [EB/OL ] . https://www.ncbi.nlm.nih.gov/books/NBK62111.htm https://www.ncbi.nlm.nih.gov/books/NBK62111.htm , 2024-4-25 .

Cuvertino S , Hartill V , Colyer A , et al . A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome [J ] . Genetics in Medi cine , 2020 , 22 ( 5 ): 867 - 877 .