Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations

Journal of Bone and Mineral Research

Volumn 27, Issue 3, 2012, Pages 713-718

  Ben Amor, I Mouna ^a   Edouard, Thomas ^b   Glorieux, Francis H ^a   Chabot, Gilles ^b   Tischkowitz, Marc ^c   Roschger, Paul ^d   Klaushofer, Klaus ^d   Rauch, Frank ^a  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d HANUSCH HOSPITAL   (Austria)

Author keywords

BACKSCATTERED ELECTRON IMAGING; BONE MINERAL DENSITY; LOEYS DIETZ SYNDROME; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADULT; ARTICLE; BONE DENSITY; BONE MASS; BONE MINERALIZATION; BONE PAIN; BONE TURNOVER; CASE REPORT; CONTROLLED STUDY; FEMUR FRACTURE; GENE MUTATION; HETEROZYGOSITY; HUMAN; ILIAC BONE; LOEYS DIETZ SYNDROME; LUMBAR SPINE; MALE; METACARPAL BONE FRACTURE; MORPHOMETRICS; OSSIFICATION; OSTEOPOROSIS; PHENOTYPE; RADIUS FRACTURE; RARE DISEASE; RECEPTOR GENE; TGFBR1 GENE; TGFBR2 GENE; TRABECULAR BONE;

ABSORPTIOMETRY, PHOTON; ADOLESCENT; ADULT; BONE DENSITY; FEMALE; HUMANS; LOEYS-DIETZ SYNDROME; MALE; MUTATION; ORGAN SIZE; OSTEOPOROSIS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 84857306514     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1470     Document Type: Article

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