Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights into the Pathogenesis of Methylation Defects.

Yamato Keidai Yorihiro Iwasaki Kanako IwasakiSachiko HonjoMurat Bastepe Akihiro Hamasaki

Published in: The Journal of clinical endocrinology and metabolism (2021)

Our comprehensive analysis of a pair of monozygotic twins with sporPHP1B ruled out all previously described genetic causes. Twin concordance indicates that the causative event was an imprinting error earlier than the timing of monozygotic twinning.

Keyphrases

genome wide
gestational age
dna methylation
late onset
copy number
amyotrophic lateral sclerosis
preterm birth