Article

Concordant Epigenetic and Discordant Clinical Php1b/ippsd3 Manifestations in Two Monozygotic Adolescent Twins

2025-11-19

Abstract excerpt

<title>Abstract</title> <p> Background Imprinting disorders are caused by epigenetic alterations leading to abnormal gene expression from imprinted loci. Pseudohypoparathyroidism type 1B is characterized by methylation defects at the <italic>GNAS</italic> locus, affecting hormone responsiveness. Monozygotic twins discordant for imprinting disorders provide a unique opportunity to investigate the timing, mainte...

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Literature Corpus work: 7c373ccb-a4ad-5681-a577-42e639a0b9ea
DOI: 10.21203/rs.3.rs-7979825/v1

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