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Last Updated: 01/07/2026

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Found 397 publications

Corrigendum to "Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)" [Bone 197 (2025) 117477].

Corrigendum to "Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)" [Bone 197 (2025) 117477].

Journal: Bone
Published: August 07, 2025

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.

Journal: Rheumatology (Oxford, England)
Published: July 27, 2025

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Journal: Calcified tissue international
Published: May 26, 2025

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Journal: Bone
Published: January 14, 2025

Health-related quality of life in patients with Camurati-Engelmann disease: A case series study.

Health-related quality of life in patients with Camurati-Engelmann disease: A case series study.

Journal: Medicina clinica
Published: November 24, 2024

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.

Journal: Genes
Published: September 25, 2024

Unilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case.

Unilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case.

Journal: Journal of neurosurgery. Case lessons
Published: September 03, 2024

Sclerosing bone dysplasias: a pictorial essay.

Sclerosing bone dysplasias: a pictorial essay.

Journal: Radiologia brasileira
Published: June 10, 2024

Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.

Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.

Journal: Pediatric rheumatology online journal
Published: June 05, 2024

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Journal: Journal of human genetics
Published: April 12, 2024

Ribbing disease: apropos of a case

Ribbing disease: apropos of a case

Journal: Acta ortopedica mexicana
Published: October 23, 2023

The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.

The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.

Journal: Advances in experimental medicine and biology
Published: July 31, 2023
Showing 1-12 of 397

Last Updated: 01/07/2026