Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental delay, severe autistic symptoms and considerably red...

Descripción completa

Detalles Bibliográficos
Autores principales: Kehrer-Sawatzki, Hildegard, Wahlländer, Ute, Cooper, David N., Mautner, Victor-Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535936/
https://www.ncbi.nlm.nih.gov/pubmed/34681033
http://dx.doi.org/10.3390/genes12101639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535936/
https://www.ncbi.nlm.nih.gov/pubmed/34681033
http://dx.doi.org/10.3390/genes12101639

Ejemplares similares