A Chinese patient with KBG syndrome and a 9q31.2–33.1 microdeletion

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Michail Spiliopoulos, Francesco Brancati, Eric Powell et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

Jens Herrmann, Pallister Pd, W Tiddy et al. · PubMed · 1975 · 142 citations

Medicine, Genetics, Pediatrics +12

Familial 16q24.3 microdeletion involving <i>ANKRD11</i> causes a KBG‐like syndrome

Stephanie Sacharow, Deling Li, Yao Fan et al. · American Journal of Medical Genetics Part A · 2012 · 83 citations

Life Sciences, Genetics, Molecular Genetics +17

An ENU-induced mutation in the <i>Ankrd11</i> gene results in an osteopenia-like phenotype in the mouse mutant Yoda

Ivana Barbaric, Mark Perry, T. Neil Dear et al. · Physiological Genomics · 2007 · 65 citations

Medicine, Genetics, Molecular Genetics +17

Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

Jonathan P. Park, John B. Moeschler, Sylvie Berg et al. · Journal of Medical Genetics · 1991 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17