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

Reyes Diaz, J. V., Jin, Y., Garber, K., Cossen, K. M., Li, Y., Jin, P., Li, H., & Ham, J. N. (2022). A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism. American Journal of Medical Genetics Part A, 188(8), 2429–2433. Portico. https://doi.org/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

Affiliated Authors:

Jee-Young Nina Ham

Columbia Affiliation: