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

doi:10.1038/ejhg.2017.49

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Article

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

European journal of human genetics : EJHG - 1 Jun 2017

Novara Francesca, Rinaldi Berardo, Sisodiya Sanjay M, Coppola Antonietta, Giglio Sabrina, Stanzial Franco, Benedicenti Francesco, Donaldson Alan, Andrieux Joris, Stapleton Rachel, Weber Astrid, Reho Paolo, van Ravenswaaij-Arts Conny, Kerstjens-Frederikse Wilhelmina S, Vermeesch Joris Robert, Devriendt Koenraad, Bacino Carlos A, Delahaye Andrée, Maas S M, Iolascon Achille, Zuffardi Orsetta

Abstract excerpt

16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its...

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Identifiers

PMID: 28422132
DOI: 10.1038/ejhg.2017.49
PMCID: PMC5533198

Genes

CDH15
ZFPM1

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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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