Article
Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
Genes - 15 Dec 2022
Szabó Tímea Margit, Balogh István, Ujfalusi Anikó, Szűcs Zsuzsanna, Madar László, Koczok Katalin, Bessenyei Beáta, Csürke Ildikó, Szakszon Katalin
Abstract excerpt
The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental delay, speech delay and autism spectrum disorder as nearly...
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