All individuals with variants in gene CCDC120

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
00105902 27380894-FamIIAPat1/II PubMed: Lindert 2016, Journal: Lindert 2016 3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II M no Germany German - 0 - - OI osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature 1 2 Cecilia Giunta
00172959 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172960 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00302812 patient PubMed: Abidi 2016 - M - France - - 0 - - NBIA see paper; ... 1 1 Johan den Dunnen
00334781 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - retinal disease - 1 5 LOVD
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