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Updated: Jul 28, 2025

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Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome

Saikat Patra1, Garima Goyal1, Yasir Ahmad Lone2

  • 1Neonatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.

BMJ Case Reports
|May 31, 2023
PubMed

Keywords:
Congenital disordersGenetic screening / counsellingGeneticsNeonatal intensive careNeuroimaging

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