All individuals with variants in gene LRP1

7 entries on 1 page. Showing entries 1 - 7.
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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) 1 1 Yu Sun
00183054 23033978-Trio39 PubMed: de Ligt 2012 - M - Netherlands - - 0 - - ID see paper; … 1 1 Johan den Dunnen
00306818 family PubMed: Klar 2015, Journal: Klar 2015 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Sweden Pakistan - 0 - - KPA see paper; ..., perifollicular keratosis and inflammation progressing to atrophy and scars facial skin 1 4 Johan den Dunnen
00309730 - PubMed: Chasman 2011, Journal: Chasman 2011 - - - United States - - 0 - - migraine - 1 1 Johan den Dunnen
00327053 M54 II-1 Doucette 2021, submitted single affected female of a 4 person family. 2 unaffected parents, and 1 unaffected sister, presumed autosomal recessive. F no Canada - - 0 Yes - maculopathy Fundus: Multiple large, confluent drusen in the central macula and nasal retina Ocular Coherence Tomography (OCT): Numerous confluent drusen in the macula Vision at time of examination was unaffected. 2 1 Lance P Doucette
00327401 M70 II-1 Doucette 2021, submitted - F no Canada Originally from India - - - - maculopathy - 2 1 Lance P Doucette
00385980 - PubMed: Maranhao-2014 The parents of all affected members were unaffected. - yes Pakistan Pakistani - 0 - - retinal disease night blindness with onset in early childhood 1 9 LOVD
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