Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followe...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Kim, Bo-Young, Park, Mi-Hyun, Woo, Hae-Mi, Jo, Hye-Yeong, Kim, Ji Hoon, Choi, Hyung Jin, Koo, Soo Kyung
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5625714/
https://ncbi.nlm.nih.gov/pubmed/28969599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0465-9
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge