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- [1] Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases CLINICAL EPIGENETICS, 2018, 10
- [5] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (07): : 2623 - 2627
- [6] Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (02): : 765 - 771
- [7] Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, 107 (03): : E947 - E954
- [10] Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3) FRONTIERS IN ENDOCRINOLOGY, 2024, 15