Article
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
The Journal of clinical endocrinology and metabolism - 16 Jun 2022
Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak Uwe
Abstract excerpt
CONTEXT: Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs). OBJECTIVE: We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms. METHODS: Four clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men...
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