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Article

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Human molecular genetics - 20 Apr 2023

Awamleh Zain, Choufani Sanaa, Cytrynbaum Cheryl, Alkuraya Fowzan S, Scherer Stephen, Fernandes Sofia, Rosas Catarina, Louro Pedro, Dias Patricia, Neves Mariana Tomásio, Sousa Sérgio B, Weksberg Rosanna

Abstract excerpt

Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the ankyrin repeat-containing protein 11A transcriptional regulator, which is expressed in the brain and implicated in neural development. Syndromic conditions...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36440975
DOI: 10.1093/hmg/ddac289
PMCID: PMC10117159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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