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Exome Sequencing in Monogenic Forms of Rickets.

Prince JacobGandham SriLakshmi BhavaniPrajna UdupaZheng WangSankar V HariharanKishan DelampadyAshwin DalalNutan KamathShiro IkegawaRathika D ShenoyKoushik HandattuHitesh ShahKatta Mohan Girisha
Published in: Indian journal of pediatrics (2023)
The authors hereby report a case series of individuals from India with a molecular diagnosis of rickets and provide the literature review which would help in enhancing the clinical and molecular profile for rapid and differential diagnosis of rickets.
Keyphrases
  • case report
  • single molecule
  • single cell
  • gene expression
  • dna methylation
  • sensitive detection