Associated Papers
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).
Mumm S et al.
Bone, 2025
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
RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes.
Cruz BR et al.
Transfusion Medicine (oxford, England), 2012
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Janssens K et al.
Journal of Medical Genetics, 2006
A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.
Owhonda RA et al.
Jbjs Case Connector, 0
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