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Article

Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.

American journal of medical genetics. Part A - 1 Mar 2023

Pasquali Daniela, Torella Annalaura, Grandone Anna, Luongo Caterina, Morleo Manuela, Peduto Cristina, di Fraia Rosa, Selvaggio Lucia Digitale, Allosso Francesca, Accardo Giacomo, Zanobio Maria Teresa, Maitz Silvia, Mariani Milena, Selicorni Angelo, Banfi Sandro, Nigro Vincenzo

Abstract excerpt

Here we describe three patients with neurodevelopmental disorders characterized by mild-to-moderate intellectual disability, mildly dysmorphic features, and hirsutism, all of which carry de novo sequence variants in the WW domain-containing adaptor of the coiled-coil (WAC) gene; two of these-c.167delA, p.(Asn56I1efs*136) and c.1746G>C, p.(Gln582His)-are novel pathogenic variants, and the third-c.1837C>T,...

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Identifiers

PMID: 36420948
DOI: 10.1002/ajmg.a.63061

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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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