All individuals with variants in gene ATP6AP2

6 entries on 1 page. Showing entries 1 - 6.
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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) 8 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) 7 1 Yu Sun
00132793 23595882-Fam PubMed: Korvatska 2013 4-generation family, 4 affected males, unaffected heterozygous carrier females M - United States - - 0 - - XPDS see paper; ... 1 4 Johan den Dunnen
00132794 15746149-FamK8355 PubMed: Ramser 2005 3-generation family, 7 affected males M no - - - 0 - - MRXSH see paper; ..., X-linked mental retardation, epilepsy 1 7 Johan den Dunnen
00172646 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172647 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
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