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Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.

Alec Reginald Errol CorreaPuneeta MishraMadhulika KabraNeerja Gupta
Published in: Indian journal of pediatrics (2020)
This report highlights the major clinical features of BWS that should prompt pediatricians to offer genetic testing to evaluate the epigenetic abnormalities using MS-MLPA, as it not only helps in appropriate counseling but also provides further guidance about the tumor risk surveillance.
Keyphrases
  • dna methylation
  • gene expression
  • mass spectrometry
  • multiple sclerosis
  • public health
  • ms ms
  • smoking cessation
  • case report
  • hiv infected