All individuals with variants in gene DSG4

7 entries on 1 page. Showing entries 1 - 7.
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Owner     
00080855 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - HYPT6 Hypotrichosis 6 (OMIM:607903) 1 1 Daniel Trujillano
00248487 family PubMed: Mero 2017 2-generation family, 4 affected fetuses, unaffected heterozygous carrier parents (first cousins) - yes Norway - - - - - ? see paper; ..., limb contractures (3/3), hydrocephalus/dilated cerebral ventricles (3/4), small cerebellum (3/3), corpus callosum agenesis (1/3) 1 4 Johan den Dunnen
00291929 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00291930 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291931 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 92 Mohammed Faruq
00304620 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00438587 HSC0036 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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