{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T02:38:21Z","timestamp":1789699101513,"version":"4.0.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T00:00:00Z","timestamp":1704844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The neurodevelopmental disorder known as Helsmoortel\u2010van 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 <jats:italic>ADNP<\/jats:italic> gene (activity\u2010dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype\u2013phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and <jats:italic>ADNP<\/jats:italic> defects.<\/jats:p>","DOI":"10.1002\/ajmg.a.63539","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T07:06:28Z","timestamp":1704956788000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Extended phenotypic characterization of a novel <scp>Helsmoortel\u2010van der Aa<\/scp> syndrome case series"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2440-7441","authenticated-orcid":false,"given":"Giulia","family":"Pascolini","sequence":"first","affiliation":[{"name":"Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome 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