Associated Papers
Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.
Campos T et al.
Genes, 2024
Diagnosing Camurati-Engelmann disease-the age of whole-exome sequencing.
Nagra D et al.
Rheumatology (oxford, England), 2023
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.
Tao XH et al.
Molecular Genetics & Genomic Medicine, 2022
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