Presentation Information
[P2-02-8]Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature
Kazuhisa Akiba1, Keiko Matsubara1,2, Atsushi Hattori1, Maki Fukami1 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan)
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