Associated Papers
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
ACTH resistance: genes and mechanisms.
Meimaridou E et al.
Endocrine Development, 2013
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
Hughes CR et al.
The Journal of Clinical Investigation, 2012
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