Genotype–Phenotype Correlation in Fibrous Dysplasia/ <scp>McCune</scp> ‐Albright Syndrome Patients With Craniofacial Lesions

This study showed no genotype-phenotype correlations in FD/MAS but highlights R201H as the major variant in this population. Active lesions correlate with early onset, bilateral craniofacial involvement, and MAS, warranting close monitoring. R201C's link to malignancy, though inconclusive, suggests possible variant-specific differences in malignant transformation.

Authors

Xuefen Li (ORCID: https://orcid.org/0000-0002-2989-3477)
Yanrui Feng
Lisha Sun (ORCID: https://orcid.org/0000-0002-4571-3739)
Tiejun Li (ORCID: https://orcid.org/0000-0001-5983-2985)
Xue Jiang (ORCID: https://orcid.org/0009-0007-3426-3879)

Institutions

Peking University (CN)
National Clinical Research Center for Digestive Diseases (CN)
National Clinical Research (US)

Publication Details

Journal: Oral Diseases
Published: 2025-08-31
DOI: https://doi.org/10.1111/odi.70074
Primary Topic: Bone Tumor Diagnosis and Treatments
Type: article
Field-Weighted Citation Impact: 0.00

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article

Genotype–Phenotype Correlation in Fibrous Dysplasia/ McCune ‐Albright Syndrome Patients With Craniofacial Lesions

Xuefen Li, Yanrui Feng, Lisha Sun, Tiejun Li et al.

Aug 31, 2025

1 links

Oral Diseases

Bone Tumor Diagnosis and Treatments

article

Genotype–Phenotype Correlation in Fibrous Dysplasia/ McCune ‐Albright Syndrome Patients With Craniofacial Lesions

Xuefen Li, Yanrui Feng, Lisha Sun, Tiejun Li, Xue Jiang

August 31, 2025article en

Abstract

This study showed no genotype-phenotype correlations in FD/MAS but highlights R201H as the major variant in this population. Active lesions correlate with early onset, bilateral craniofacial involvement, and MAS, warranting close monitoring. R201C's link to malignancy, though inconclusive, suggests possible variant-specific differences in malignant transformation.

Oral DiseasesVol. 32(1)

Peking University (CN), National Clinical Research Center for Digestive Diseases (CN), National Clinical Research (US)

Openalex Percentile: Top 66%

Bone Tumor Diagnosis and Treatments

DOI Source OpenAlex

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