All individuals with variants in gene SRPX2

9 entries on 1 page. Showing entries 1 - 9.
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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) 6 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
00032340 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 patient, unaffected heterozygous carrier parents - ? United States - 00y07m 0 - - ? see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .. 1 1 Johan den Dunnen
00050588 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - ? craniosynostosis, global developmental delay, abnormality of the palpebral fissures, abnormality of the palmar creases 1 2 Johan den Dunnen
00172719 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00276137 3760 - - M no (Italy) - 09y 0 - - ? - 1 1 Pietro Palumbo
00296794 APN13 PubMed: Redin 2014 2-generation family, 1 affected, unaffected carrier mother/2 aunts M - France - - 0 - - ID - 1 1 Johan den Dunnen
00296805 Fam10 PubMed: Roll 2006, PubMed: Lesca 2013 3-generation family, 11 affected (7F, 4M) F;M - France - - 0 - - EE see paper; ..., Atypical Rolandic epilepsy, verbal dyspraxia 1 10 Johan den Dunnen
00296814 FamT2472Pat2472-2 PubMed: Roll 2006 3-generation family, 1 affected, 4 heterozygous carrier females (2 mild intellectual disability) M - Australia - - 0 - - ? see paper; ..., bilateral posterior perisylvian polymicrogyria;12y-focal seizures beginning with numbness fingers right hand and leg and sudden fall 1 1 Johan den Dunnen
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