Variant: rs1221781038 

    present in Gene: ANKRD11
    present in Chromosome: 16
    Position on Chromosome: 89279695
    Alleles of this Variant: G/A;T

rs1221781038 in ANKRD11 gene and Dysmorphic features PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

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

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 17163996 2006 KBG syndrome.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.