共 50 条
- [22] A Novel Homozygous Frameshift Mutation in Exon 2 of LEP Gene Associated with Severe Obesity: A Case Report CLINICAL MEDICINE INSIGHTS-PEDIATRICS, 2016, 10 : 115 - 118
- [24] A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (9-10): : 851 - 856
- [25] Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2020, 105 (04): : 1061 - 1078
- [28] Experience with Cinacalcet in Neonatal Severe Hyperparathyroidism Due to CASR Mutation HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 282 - 282
- [29] NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM: A CASE REPORT HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 46 - 46
- [30] Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism Journal of Endocrinological Investigation, 2016, 39 : 617 - 625