Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
DNA methylation
epigenetics
episignature
molecular diagnostics
neurodevelopmental disorders
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2022
2022
Historique:
received:
18
08
2022
accepted:
14
11
2022
entrez:
2
1
2023
pubmed:
3
1
2023
medline:
3
1
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 36589751
doi: 10.3389/fcell.2022.1022683
pii: 1022683
pmc: PMC9800036
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1022683Informations de copyright
Copyright © 2022 McConkey, White-Brown, Kerkhof, Dyment and Sadikovic.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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