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Article

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2022

Ignatius Erika, Puosi Riina, Palomäki Maarit, Forsbom Noora, Pohjanpelto Max, Alitalo Tiina, Anttonen Anna-Kaisa, Avela Kristiina, Haataja Leena, Carroll Christopher J, Lönnqvist Tuula, Isohanni Pirjo

Abstract excerpt

Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplication mosaicism of a region encompassing EBF3 and a phenotype consistent with EBF3-NDD, which may reflect the importance of EBF3 gene-dosage for neurodevelopment. The phenotype...

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Identifiers

PMID: 34999443
DOI: 10.1016/j.ejpn.2021.12.012

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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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