All individuals with variants in gene UBE2T

3 entries on 1 page. Showing entries 1 - 3.
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00046580 - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >25y 0 - - FANCT see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ... 2 1 Johan den Dunnen
00046581 - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 08y 0 - - FANCT see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ... 2 1 Johan den Dunnen
00047511 - PubMed: Rickman 2015, Journal: Rickman 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no ? (unknown) - - 0 - - FANCT see paper; at birth bilateral radial aplasia, absent thumbs, microcephaly, micrognathia, cafe au lait spots, absent left kidney, elevated chromosomal breakage in peripheral blood samples treated with DEB, ... 2 1 Francis Lach
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