High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects - Danzig, Jennifer; Li, Dong; Jan de Beur, Suzanne; Levine, Michael A (The journal of clinical endocrinology and metabolism, 2021)
Keywords: Adult; Alleles; Analysis; Child; Child, Preschool; DNA Methylation; DNA microarrays; Epigenesis, Genetic; Epigenetic inheritance; Epigenetics; Exons; Family; Female; Follow-Up Studies; Gene Deletion; Genes; Genetic analysis; Genetic aspects; Genetic research; Genomic imprinting; Haplotypes; Heterozygote; High-Throughput Nucleotide Sequencing - methods; Humans; Male; Methylation; Mosaicism; Online Only; Pedigree; Prognosis; Pseudohypoparathyroidism; Pseudohypoparathyroidism - genetics; Pseudohypoparathyroidism - pathology; Uniparental Disomy; pseudohypoparathyroidism; parathyroid hormone; imprinting; epigenetics; GNAS