Li J et al.
World Journal of Clinical Cases, 2023
Suntharalingham JP et al.
F1000research, 2019
Sabir AH et al.
Case Reports in Genetics, 2019
Brioude F et al.
Human Mutation, 2015
Kerns SL et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Brioude F et al.
Journal of Medical Genetics, 2013
Arboleda VA et al.
Nature Genetics, 2012