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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia

Cathrine Constantacos1, Janel Darcy Hunter2, Elizabeth Tharpe Walsh2

  • 1Pediatrics, Section of Endocrinology, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA caconsta@wakehealth.edu.

BMJ Case Reports
|May 20, 2021
PubMed

Keywords:
calcium and bonecongenital disordersgeneticspaediatrics

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