All individuals with variants in gene PEX16

14 entries on 1 page. Showing entries 1 - 14.
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00290398 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 118 Mohammed Faruq
00304306 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309901 PBDD-01 PubMed: Honsho 1998, PubMed: South 1999 - - - Japan - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309902 GM06231/D-01 PubMed: Shimozawa 2002 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309903 D-02 PubMed: Shimozawa 2002 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309904 D-03 PubMed: Shimozawa 2002 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
00309905 Pat07 PubMed: Shaheen 2010 family, 1 affected, 4 deceased siblings had similar phenotype M - Saudi Arabia - 00y08m 0 - - PBD born at term, low birth weight; 1d-tyypical Zellweger facies, talibes, hypotonia; liver enzymes slightly elevated; MRI brain prominent ventricles, wideningsulci and sylivian fissures, cerebellar vermis hypoplasia; died 8m 1 1 Nancy Braverman
00309906 Pat6 PubMed: Ebberink 2010 - F yes India - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309907 Pat1 PubMed: Ebberink 2010 2-generation family, 2 affected (F, M) F yes Turkey - - 0 - - PBD see paper; ... 1 2 Johan den Dunnen
00309908 Pat2 PubMed: Ebberink 2010 brother M yes Turkey - - 0 - - PBD see paper; ... 1 1 Johan den Dunnen
00309909 Pat3/FJGG PubMed: Ebberink 2010, PubMed: Pineda 1999 - M - Spain - - 0 - - PBD see paper; ... 1 1 Johan den Dunnen
00309910 Pat4 PubMed: Ebberink 2010 - - - - - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309911 Pat5 PubMed: Ebberink 2010 - F - - - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309912 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
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