A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification...

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Bibliografische gegevens

Hoofdauteurs:	Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	MDPI AG 2022-12-01
Reeks:	Biomedicines
Onderwerpen:	Sifrim–Hitz–Weiss syndrome <i>CHD4</i>-associated ND phenotype frameshift <i>CHD4</i> variant familial translocation <i>GSG1L2</i> dup(2)(q14.3q21.1)
Online toegang:	https://www.mdpi.com/2227-9059/11/1/12
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