All individuals with variants in gene RAD51B

6 entries on 1 page. Showing entries 1 - 6.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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
00128412 - - - - - France - - - - - BROVCA breast cancer 1 1 Lisa Golmard
00408053 Family A PubMed: Chebil 2016 13 patients ? - France Tunisia - - - - retinal disease onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients 1 1 LOVD
00408054 Family B PubMed: Chebil 2016 13 patients ? - France Tunisia - - - - retinal disease onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients 1 1 LOVD
00408055 Family C PubMed: Chebil 2016 13 patients ? - France Tunisia - - - - retinal disease onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients 1 1 LOVD
00431559 - - - - - - - - - - - cancer, prostate - 1 1 R Hamid
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