Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature

Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features, growth restriction, developmental delay, intellectual disability, epilepsy, and other malformations. The NSD2 gene localiz...

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Bibliografische gegevens

Hoofdauteurs:	Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, David Dyment, Bekim Sadikovic
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Frontiers Media S.A. 2022-12-01
Reeks:	Frontiers in Cell and Developmental Biology
Onderwerpen:	epigenetics DNA methylation molecular diagnostics neurodevelopmental disorders episignature
Online toegang:	https://www.frontiersin.org/articles/10.3389/fcell.2022.1022683/full
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