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Article

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

American journal of medical genetics. Part A - 1 May 2024

Pascolini Giulia, Di Zenzo Giovanni, Panebianco Annarita, Didona Biagio, Gozes Illana

Abstract excerpt

The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity-dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with...

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PMID: 38204290
DOI: 10.1002/ajmg.a.63539

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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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