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Clustered Structural Variants Involving PHEX at Xp22 in a Female Patient with X-Linked Hypophosphatemia

Erika Uehara1, Yasuhiro Naiki2, Atsushi Hattori1,3

  • 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Cytogenetic and Genome Research
|July 2, 2025
PubMed
Abstract

Keywords:
Chromosomal rearrangementCopy-number variationNon-homologous end joiningX chromosome inactivationX-linked hypophosphatemia

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