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Article

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Cold Spring Harbor molecular case studies - 1 Nov 2016

Kleyner Robert, Malcolmson Janet, Tegay David, Ward Kenneth, Maughan Annette, Maughan Glenn, Nelson Lesa, Wang Kai, Robison Reid, Lyon Gholson J

Abstract excerpt

KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of...

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Identifiers

PMID: 27900361
DOI: 10.1101/mcs.a001131
PMCID: PMC5111005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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