Kabuki syndrome
Definition:
References:
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[1]. M P Adam, et al. Kabuki syndrome: a review. Clin Genet. 2005 Mar;67(3):209-19. [Content Brief]
[2]. Marja W Wessels, et al. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol. 2002 Apr;11(2):95-102. [Content Brief]
[3]. Peter M Van Laarhoven, et al. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 Aug 1;24(15):4443-53. [Content Brief]