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Courtney Vaccaro
Courtney Vaccaro
Children's Hospital of Philadelphia
Exome sequencing
Missense mutation
Polysyndactyly
Genetics
Polydactyly
2
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Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
2021
American Journal of Medical Genetics Part A
Alanna Strong
Laurie Simone
Anthony D. Krentz
Courtney Vaccaro
Deborah Watson
Hayley Ron
Jennifer M. Kalish
Helio Pedro
Elaine H. Zackai
Hakon Hakonarson
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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
2021
American Journal of Medical Genetics Part A
Alanna Strong
Michael E. March
Christopher J. Cardinale
Sophia E. Kim
Jamie Merves
Hilary B. Whitworth
Leslie Raffini
Christopher LaRosa
Lawrence Copelovitch
Cuiping Hou
Diana J. Slater
Courtney Vaccaro
Deborah Watson
Elaine H. Zackai
Jeffrey T. Billheimer
Hakon Hakonarson
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