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Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24.

Manal MustafaNitin RamdasMahmoud ElHalikArif Faquih
Published in: Case reports in pediatrics (2021)
Sialadenitis is a well-known phenomenon that is rarely diagnosed in neonates. To the best of our knowledge, this is the first case report to describe the exceedingly rare association of nonsuppurative submandibular sialadenitis in a neonate with TNDM due to multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in 6q24 and heterozygous pathogenic variants in the ZFP57 gene.
Keyphrases
  • genome wide
  • copy number
  • case report
  • healthcare
  • early onset
  • dna methylation
  • metabolic syndrome
  • low birth weight
  • preterm birth