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

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 <i>ADNP</i>-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 phenot...

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Bibliographic Details
Main Authors: Tímea Margit Szabó, István Balogh, Anikó Ujfalusi, Zsuzsanna Szűcs, László Madar, Katalin Koczok, Beáta Bessenyei, Ildikó Csürke, Katalin Szakszon
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
Helsmoortel–Van der AA syndrome
<i>ADNP</i>
Noonan
Online Access:https://www.mdpi.com/2073-4425/13/12/2367

Internet

https://www.mdpi.com/2073-4425/13/12/2367

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