Genetics in Medicine Open (Jan 2024)

P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

  • Laura Rust,
  • Paige Hazelton,
  • Joseph Farris,
  • Matheus Wilke,
  • Eric Klee,
  • Whitney Thompson,
  • Sarah Thurman,
  • Lisa Schimmenti,
  • Brendan Lanpher

Journal volume & issue
Vol. 2
p. 101305

Abstract

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