Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

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...

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Detalles Bibliográficos
Autores principales: Szabó, Tímea Margit, Balogh, István, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Madar, László, Koczok, Katalin, Bessenyei, Beáta, Csürke, Ildikó, Szakszon, Katalin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778517/
https://www.ncbi.nlm.nih.gov/pubmed/36553633
http://dx.doi.org/10.3390/genes13122367

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