Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: Phenotypic and molecular characterization

Medicine & Life Sciences

• Familial Hypercalciuric Hypocalcemia 100%
• Germ-Line Mutation 62%
• Mutation 30%
• Calcium-Sensing Receptors 29%
• Calcium 15%
• Heterotrimeric GTP-Binding Proteins 14%
• Hypercalciuria 14%
• Gain of Function Mutation 14%
• Exome 13%
• Whole Exome Sequencing 13%
• Magnesium 11%
• DNA Sequence Analysis 11%
• Fathers 10%
• Siblings 10%
• Kidney 5%
• Growth 5%
• Serum 5%
• Genes 4%

Chemical Compounds

• Mutation 46%
• Dideoxynucleotide DNA Sequencing 15%
• Calcium(0) 14%
• Protein 3%