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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
Affiliations
Laura Rust
Mayo Clinic
Paige Hazelton
Mayo Clinic
Joseph Farris
Mayo Clinic
Matheus Wilke
Mayo Clinic
Eric Klee
Mayo Clinic
Whitney Thompson
Mayo Clinic
Sarah Thurman
Mayo Clinic
Lisa Schimmenti
Mayo Clinic
Brendan Lanpher
Mayo Clinic
Journal volume & issue
Vol. 2
p. 101305
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