All individuals with variants in gene PQBP1

8 entries on 1 page. Showing entries 1 - 8.
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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) 4 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) 3 1 Yu Sun
00050407 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability profound, double outlet right ventricle, abnormality of the choroid, reduced factor xi activity 1 1 Johan den Dunnen
00172644 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172645 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00180161 29286531-Pat13 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (HP:0001250), microcephaly (HP:0000252), mild intellectual disability (HP:0001256), speech delay (HP:0000750), hyperactivity (HP:0000752), prominent ears (HP:0000411). 1 1 Johan den Dunnen
00183116 25644381-FamP57 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 5 Johan den Dunnen
00183161 25644381-FamAU72 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
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