From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose core phenotype encompasses growth restriction, facial gestalt, intellectual disability and seizures. Nevertheless, great phenotypic variability exists due to the variable extent of the responsible 4p deletion. In addition,...

Descripción completa

Detalles Bibliográficos
Autores principales: Wiel, Luisa Cortellazzo, Bruno, Irene, Barbi, Egidio, Sirchia, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097050/
https://www.ncbi.nlm.nih.gov/pubmed/35550183
http://dx.doi.org/10.1186/s13052-022-01267-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097050/
https://www.ncbi.nlm.nih.gov/pubmed/35550183
http://dx.doi.org/10.1186/s13052-022-01267-w

Ejemplares similares