All individuals with variants in gene FAM123B

4 entries on 1 page. Showing entries 1 - 4.
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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
00100437 - - - F no Italy caucasian - 0 - - OSCS Clinical diagnosis of OCSC: cleft palat, hearing loss, macrocephaly, facial features with frontal bossing, hypertelorism, epicanthus, longitudinal sclerotic striations of the long bones metaphysis 1 1 Eva Trevisson
00226408 PAt1 PubMed: Mavros 2018 - M no United States - - 0 - - ID see paper; ... 1 1 Johan den Dunnen
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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