日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes

阿根廷先天性高胰岛素血症的特征:临床表现、遗传学发现和治疗结果

Pacheco, Gabriela; Bastida, Maria G; Cáceres, Juan; Alonso, Guillermo; Aziz, Mariana; Suarez, Martha; Flores, Adriana; Femenia, Victoria; Forclaz, María V; Houghton, Jayne A L; Bennett, Jasmin J; Martin, Sabrina; Flanagan, Sarah E; Tangari-Saredo, Ana

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。

Laver, Thomas W; Wakeling, Matthew N; Caswell, Richard C; Bunce, Benjamin; Yau, Daphne; Männistö, Jonna M E; Houghton, Jayne A L; Hopkins, Jasmin J; Weedon, Michael N; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Tangari Saredo, Ana; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D L; Flanagan, Sarah E