All individuals with variants in gene EGR2

11 entries on 1 page. Showing entries 1 - 11.
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00035677 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035678 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00218994 28902413-Pat4 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1D 1 1 Johan den Dunnen
00218995 28902413-Pat5 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1D; no family history 1 1 Johan den Dunnen
00219062 28902413-Pat72 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4G 1 1 Johan den Dunnen
00314289 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00315495 170351 - - M ? Germany - - 0 - - CMT1D Duane anomaly, Muscular hypotonia, Motor delay 1 1 Andreas Laner
00397524 CMT-248PatII:2 PubMed: Sevilla 2015 4-generation family, 6 affected (3F, 3M) F yes Spain - 82y 0 - - CMT see paper; ..., distal lower limb muscle weakness (HP:0009053); Upper limb muscle weakness (HP:0003484); Steppage gait (HP:0003376); Distal sensory loss (HP:0002936) 1 6 Sarah El-Bestawi
00397525 CMT-248PatII:7 PubMed: Sevilla 2015 - F yes Spain - >72y 0 - - CMT see paper; ..., distal lower limb muscle weakness (HP:0009053); Upper limb muscle weakness (HP:0003484); Steppage gait (HP:0003376); Distal sensory loss (HP:0002936) 1 1 Sarah El-Bestawi
00397526 CMT-248PatIII:1 PubMed: Sevilla 2015 - M no Spain - >56y 0 - - CMT see paper; ..., distal lower limb muscle weakness HP:0009053; Upper limb muscle weakness HP:0003484; Distal sensory loss HP:0002936 1 1 Sarah El-Bestawi
00397527 CMT-248PatIII:13 PubMed: Sevilla 2015 - M no Spain - >41y 0 - - CMT see paper ... 1 1 Sarah El-Bestawi
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