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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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Principais autores: Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, David Dyment, Bekim Sadikovic
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-12-01
Serier:Frontiers in Cell and Developmental Biology
Fag:
epigenetics
DNA methylation
molecular diagnostics
neurodevelopmental disorders
episignature
Online adgang:https://www.frontiersin.org/articles/10.3389/fcell.2022.1022683/full
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