NF1 microdeletion syndrome: case report of two new patients

BACKGROUND: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than th...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, Corsello, Giovanni, Zara, Federico, Piro, Ettore, Falsaperla, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839219/
https://www.ncbi.nlm.nih.gov/pubmed/31703719
http://dx.doi.org/10.1186/s13052-019-0718-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839219/
https://www.ncbi.nlm.nih.gov/pubmed/31703719
http://dx.doi.org/10.1186/s13052-019-0718-7

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