Cargando…
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma
About 30%–40% of patients with pheochromocytoma (PCC) and paraganglioma (PGL) have underlying germline mutations in certain susceptibility genes despite absent family history of these tumors. Here, we present mutational profile of 101 such patients with PCC/PGL (PPGL) from the highly consanguineous...
Autores principales: | Albattal, Shatha, Alswailem, Meshael, Moria, Yosra, Al-Hindi, Hindi, Dasouki, Majed, Abouelhoda, Mohamed, Alkhail, Hala Aba, Alsuhaibani, Entissar, Alzahrani, Ali S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800268/ https://www.ncbi.nlm.nih.gov/pubmed/31666924 http://dx.doi.org/10.18632/oncotarget.27194 |
Ejemplares similares
-
Papillary Thyroid Cancer and a TERT Promotor Mutation-positive Paraganglioma in a Patient With a Germline SDHB Mutation
por: Alzahrani, Ali S, et al.
Publicado: (2022) -
SAT631 EPAS1 Mutations In Three Adjacent Nucleotides Resulting In Different Phenotypes
por: Alswailem, Meshael, et al.
Publicado: (2023) -
SAT613 A Novel NF1 Mutation As The Underlying Cause Of Dysmorphic Features And Acromegaly In An Atypical Case Of Neurofibromatosis Type 1
por: Alsagheir, Osamah, et al.
Publicado: (2023) -
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
por: Alhamoudi, Kheloud M., et al.
Publicado: (2022) -
MON-533 Diffuse Sclerosing Variant Papillary Thyroid Cancer: Clinical and Histopathological Features, Mutational Profile, Management and Outcome
por: Aljomaiah, Abeer Abdulhadi, et al.
Publicado: (2020)