Condition: KBG syndrome


rs1567574291 in ANKRD11 gene and KBG syndrome PMID 27605097 2016 Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.