Work

A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism

Year: 2022

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.62843

Authors: Jacqueline V. Reyes Diaz, Yulin Jin, Kathryn Garber, Kristina M. Cossen, Yujing Li, Peng Jin, Hong Li, Jee‐Young Nina Ham

Institutions: Emory University, Driscoll Children's Hospital, Children's Healthcare of Atlanta, Columbia University Irving Medical Center, Columbia University

Language: English

Topic: Pancreatic function and diabetes

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4281749438

FWCI: 0.422

Cites: 20

Cited by: 2

Related to: 10