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Article

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Italian journal of pediatrics - 19 Sept 2024

Prada Elisabetta, Meossi Camilla, Marafon Denise Piras, Grilli Federico, Scuvera Giulietta, Marchisio Paola Giovanna, Agostoni Carlo Virginio, Natacci Federica, Milani Donatella

Abstract excerpt

BACKGROUND: Some chromatinopathies may present with common clinical findings (intellectual disability, brain and limb malformation, facial dysmorphism). Furthermore, one of their cardinal shared features is growth dysregulation.We aimed to assess and deepen this resemblance in three specific conditions, namely Wiedemann-Steiner (WDSTS), Kleefstra (KLEFS1) and Coffin-Siris syndrome (CSS1), with a particular focus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39294711
DOI: 10.1186/s13052-024-01763-1
PMCID: PMC11411858

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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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