Cephalometry in adults and children with neurofibromatosis type 1: implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 cranio...

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Publicat a:Eur J Med Genet
Autors principals: Cung, Winnie, Friedman, Laura, Khan, Nicholas E., Romberg, Elaine E., Gardner, Pamela J., Bassim, Carol W., Baldwin, Andrea M., Widemann, Brigitte C., Stewart, Douglas R.
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4659762/
https://ncbi.nlm.nih.gov/pubmed/26360873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2015.09.001
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