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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Detalles Bibliográficos
Autores principales: McConkey, Haley, White-Brown, Alexandre, Kerkhof, Jennifer, Dyment, David, Sadikovic, Bekim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9800036/
https://www.ncbi.nlm.nih.gov/pubmed/36589751
http://dx.doi.org/10.3389/fcell.2022.1022683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9800036/
https://www.ncbi.nlm.nih.gov/pubmed/36589751
http://dx.doi.org/10.3389/fcell.2022.1022683

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