Presentation Information

[P1-07-6]Complex structural variants involving PHEX at Xp22 in a female patient with X-linked hypophosphatemia

Erika Uehara1, Yasuhiro Naiki2, Atsushi Hattori1,3, Maki Fukami1,3, Keiko Matsubara1,3 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Division of Endocrinology and Metabolism, National Center for Child Health and Development, 3.Division of Diversity Research, National Research Institute for Child Health and Development)

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