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Article

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.

Clinical dysmorphology - 1 Jan 2021

Pelle Alessandra, Pezzoli Laura, Apuril Erika, Iascone Maria, Selicorni Angelo

Abstract excerpt

Pathogenic variants of HIST1H1Egene have recently been associated with a condition known as Rahman syndrome, characterized by overgrowth, intellectual disability and nonspecific dysmorphic features (high hairline, full cheeks, wide nasal bridge). Wide clinical variability is reported, especially regarding the level of neurodevelopment delay and intellectual disability. We report a 10-year-old girl with...

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PMID: 33086257
DOI: 10.1097/MCD.0000000000000352

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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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