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Article

A de novo truncating mutation in ASXL1 associated with segmental overgrowth.

Journal of genetics - 1 Dec 2019

Efthymiou Stephanie, Salpietro Vincenzo, Pironti Erica, Bonsignore Maria, Ferrazzoli Valentina, Rosa Gabriella Di, Houlden Henry

Abstract excerpt

Mutations in genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype-phenotype correlations are available for some of the rarest genetic disorders that affect chromatin regulation. We hereby describe a 12-year-old girl presented at birth with severe hypotonia, developmental delay, a mid-line capillary malformation...

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Identifiers

PMID: 31819025
PMCID: PMC7116628

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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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