Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
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1. C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature;Journal of Clinical Medicine;2023-12-06
2. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B;European Journal of Endocrinology;2023-12-01
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5. High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects;The Journal of Clinical Endocrinology & Metabolism;2021-06-22
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