Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome. Shanthikumar S, Kevat A, Stapleton R, Lunke S, et al. Pediatr Pulmonol 2020 Feb 14. doi: 10.1002/ppul.24686.

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Amedeo Smart

Independent Medical Education

Shanthikumar S, Kevat A, Stapleton R, Lunke S, et al. Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome. Pediatr Pulmonol 2020 Feb 14. doi: 10.1002/ppul.24686.
PMID: 32057194