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Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T, on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer. BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
In families with clustering...
Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JWG, Fischer C, Jauch A, Moog U. Pseudoautosomal inheritance of Léri‐Weill syndrome: what does it mean?
The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes. Haploinsufficiency of SHOX leads to different phenotypes ranging from isolated short stature to Léri‐Weill syndrome characterized...
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