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Article

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2013

Lo-Castro Adriana, Brancati Francesco, Digilio Maria Cristina, Garaci Francesco Giuseppe, Bollero Patrizio, Alfieri Paolo, Curatolo Paolo

Abstract excerpt

KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated in patients with facial dysmorphism, autism,...

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PMID: 23184435
DOI: 10.1002/ajmg.b.32113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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