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Tag: CHRNG mutation

March 31, 2025

Escobar Syndrome: A Case Report of a Neonate with a Homozygous CHRNG Pathogenic Variant (c.459dup, p.Val154Serfs*24) Diagnosed Prenatally via Whole Exome Sequencing

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NEONATOLOGY TODAY is the only peer reviewed monthly newsletter that is available free to Neonatologists, Perinatologists, Neonatal Nurses, Neonatal Respiratory Care Specialists, Parents and anyone interested in the Neonatal Perinatal space.

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Tag: CHRNG mutation

Escobar Syndrome: A Case Report of a Neonate with a Homozygous CHRNG Pathogenic Variant (c.459dup, p.Val154Serfs*24) Diagnosed Prenatally via Whole Exome Sequencing