Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease

[1] Naveh Y(1984)Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations Pediatrics 74 399-405

[2] Kaftori JK(2006)Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment J Med Genet 43 1-11

[3] Alon U(2010)Microindentation for in vivo measurement of bone tissue mechanical properties in humans J Bone Miner Res 25 1877-1885

[4] Ben-David J(1997)Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family Calcif Tissue Int 61 48-51

[5] Berant M(2014)Trabecular bone score: a noninvasive analytical method based upon the DXA image J Bone Miner Res 29 518-530

[6] Janssens K(2016)Technical note: recommendations for a standard procedure to assess cortical bone at the tissue-level in vivo using impact microindentation Bone Rep 5 181-185

[7] Vanhoenacker F(2004)TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations Am J Med Genet A 127A 104-107

[8] Bonduelle M(2002)A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait Am J Hum Genet 70 11-19

[9] Verbruggen L(2005)Misinterpretation of osteodensitometry with high bone density: BMD Z > or = + 2.5 is not “normal” J Clin Densitom 8 1-6

[10] Van Maldergem L(2011)Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFbeta1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand J Bone Miner Res 26 920-933

[1] Naveh Y(1984)Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations Pediatrics 74 399-405

[2] Kaftori JK(2006)Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment J Med Genet 43 1-11

[3] Alon U(2010)Microindentation for in vivo measurement of bone tissue mechanical properties in humans J Bone Miner Res 25 1877-1885

[4] Ben-David J(1997)Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family Calcif Tissue Int 61 48-51

[5] Berant M(2014)Trabecular bone score: a noninvasive analytical method based upon the DXA image J Bone Miner Res 29 518-530

[6] Janssens K(2016)Technical note: recommendations for a standard procedure to assess cortical bone at the tissue-level in vivo using impact microindentation Bone Rep 5 181-185

[7] Vanhoenacker F(2004)TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations Am J Med Genet A 127A 104-107

[8] Bonduelle M(2002)A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait Am J Hum Genet 70 11-19

[9] Verbruggen L(2005)Misinterpretation of osteodensitometry with high bone density: BMD Z > or = + 2.5 is not “normal” J Clin Densitom 8 1-6

[10] Van Maldergem L(2011)Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFbeta1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand J Bone Miner Res 26 920-933