Associated Papers
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.
Butchbach ME
Biomolecular Detection and Quantification, 2016
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
Mitsui T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
Yi HS et al.
Clinical Endocrinology, 2012
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
Tomar N et al.
European Journal of Endocrinology, 2010
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