All individuals with variants in gene DYNLT3

7 entries on 1 page. Showing entries 1 - 7.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00143802 22383943-Pat2 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - CGD - 1 1 Johan den Dunnen
00143803 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK 1 1 Johan den Dunnen
00143804 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - 0 - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK 1 1 Johan den Dunnen
00143805 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - 0 - - CGD history of increased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked reduction in ROS productivity (0.05) 1 1 Johan den Dunnen
00172658 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 22 Lucy Raymond
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