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Heather McKnight
Heather McKnight
Children's Hospital of Philadelphia
Medicine
Hyperinsulinism
Dominance (genetics)
Hypophosphatemic Rickets
Pediatrics
2
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Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events.
2021
Frontiers in Pediatrics
Elizabeth Rosenfeld
Lauren Mitteer
Kara E. Boodhansingh
Susan A. Becker
Heather McKnight
Linda Boyajian
Amanda M. Ackermann
Jennifer M. Kalish
Tricia R. Bhatti
Lisa J. States
N. Scott Adzick
Katherine Lord
Diva D. De León
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Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas
2020
American Journal of Medical Genetics Part A
Sarah E. Sheppard
Brett Barrett
Colleen C. Muraresku
Heather McKnight
Diva D. De León
Katherine Lord
Rebecca D. Ganetzky
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