All individuals with variants in gene HS6ST2

3 entries on 1 page. Showing entries 1 - 3.
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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) 10 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) 8 1 Yu Sun
00327461 M68 II-1 Doucette 2021, submitted Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted. M - Canada - - - Yes - maculopathy Fundus: No specific findings OCT: Normal ERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512) - Reduced Visual Acuity 20/40 OU (HP:0007663) 1 1 Lance P Doucette
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