KBG syndrome

Definition:

KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.

References:

[1]. Asli Sirmaci, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94. [Content Brief]

[2]. Francesco Brancati, et al. KBG syndrome in a cohort of Italian patients. Am J Med Genet A. 2004 Dec 1;131(2):144-9. [Content Brief]

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