Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.

Arch Oral BiolAug 11, 2026 (epub)
Case ReportMedical Genetics

Tongyu Su, Taoyun Xu, Wenyan Ruan et al.

✦ AI-curated · Sources linked

Case in brief

Two unrelated patients with X-linked hypophosphatemia (XLH) were evaluated for dental phenotypes associated with novel PHEX variants. Both patients exhibited enlarged pulp chambers and irregular pulp morphology on radiographic examination. Ultrastructural analysis revealed significant dentin defects, including globular dentin and disrupted dentinal tubules. The findings highlight a recurrent dentin-pulp phenotype linked to the identified PHEX mutations.

Diagnostic / clinical pearl

Clinicians should be aware that novel PHEX variants in XLH can lead to distinct dentin-pulp phenotypes, necessitating early dental assessment to manage potential complications.

Source

PubMed · PMID 42612326

Published in Arch Oral Biol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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