All individuals with variants in gene CEP57

6 entries on 1 page. Showing entries 1 - 6.
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00106626 - PubMed: Snape 2011, PubMed: Newman 2003, PubMed: Hanks2004 male child of first-cousins (consanguineous parents) - - United Kingdom (Great Britain) white 00y00m21d 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome 1 1 Johan den Dunnen
00106627 Pat663_1 PubMed: Garcia-Castillo 2008, PubMed: Snape 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parentsbrother of patient 663_2 M - Mexico - - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome 2 2 Johan den Dunnen
00106628 Pat663_2 PubMed: Snape 2011 sister of patient 663_1 F - Mexico - - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome 2 1 Johan den Dunnen
00106629 Pat657 PubMed: Snape 2011, PubMed: Lane 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome 1 1 Johan den Dunnen
00260880 FamPat1/2 PubMed: Kasak 2009 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Estonia - - 0 - - SPGF see paper; … 1 2 Johan den Dunnen
00290563 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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