Publications by authors named "Taoyun Xu"
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).
J Bone Miner Res
August 2024
Vitamin D-dependent rickets (VDDR) is a group of genetic disorders characterized by early-onset rickets due to deficiency of active vitamin D or a failure to respond to activated vitamin D. VDDR is divided into several subtypes according to the corresponding causative genes. Here we described a new type of autosomal dominant VDDR in a Chinese pedigree.
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