All individuals with variants in gene FHL2

5 entries on 1 page. Showing entries 1 - 5.
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00016584 - PubMed: Sergouniotis 2014 4-generation family, 2 affected brothers (CD3/CD4), unaffected carrier parents and sibling M yes ? (unknown) European - 0 - - RD more severe phenotype with poor vision from the first years of life, severe generalized cone-system dysfunction, and additional significant involvement of rod photoreceptors. 1 1 Marianne Vos (LOVD-team)
00065147 - PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland European 00y04m 0 - - SIDS SIDS 1 1 Cordula Haas
00128369 45 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00289149 P18 PubMed: Evilä 2016 - - - Spain - - 0 - - MYOP distal myopathy 1 1 Johan den Dunnen
00317742 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
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