SAT613 A Novel NF1 Mutation As The Underlying Cause Of Dysmorphic Features And Acromegaly In An Atypical Case Of Neurofibromatosis Type 1

Disclosure: O. Alsagheir: None. L.A. Alobaid: None. M. Alswailem: None. H. Al-Hindi: None. A.S. Alzahrani: None. Introduction: Neurofibromatosis type 1 is an autosomal dominant disease with an estimated incidence of about 1:2000 cases. It is caused by genetic alterations in the gene NF1 encoding the...

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Detalles Bibliográficos
Autores principales: Alsagheir, Osamah, Alobaid, Lulu Abdulaziz, Alswailem, Meshael, Al-Hindi, Hindi, Alzahrani, Ali Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Neuroendocrinology And Pituitary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553998/
http://dx.doi.org/10.1210/jendso/bvad114.1346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553998/
http://dx.doi.org/10.1210/jendso/bvad114.1346

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