All individuals with variants in gene NHEJ1

9 entries on 1 page. Showing entries 1 - 9.
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00210958 30503522-PatDBA232 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - DBA - 1 1 Johan den Dunnen
00292598 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00435477 - - - F yes Egypt - - - - - SCID Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 1 1 Rabab Elhawary
00435480 Pat1 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents - no France - 18y - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., 18-y died septic shock; microcephaly; growth retardation; chromosomal alterations, urogenital and bone malformations; bacterial and opportunistic infections; autoimmune anemia, thrombocytopenia 2 1 Johan den Dunnen
00435481 Pat2 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents (1st degree cousins)/relatives, 3 older sisters died from severe infections during first year of life - yes Turkey - 04y - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., 4-y died septic shock; microcephaly; growth retardation; infections bacterial and opportunistic; no autoimmunity 1 1 Johan den Dunnen
00435482 Pat3 PubMed: Buck 2006 2-generation family, 2 affected sibs, unaffected heterozygous parents (1st degree cousins)/relatives - yes Turkey - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face, bone malformation; infections bacterial and opportunistic; autoimmune anemia, thrombocytopenia 1 2 Johan den Dunnen
00435483 Pat4 PubMed: Buck 2006 sib - yes Turkey - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face; infections bacterial and opportunistic; no autoimmunity 1 1 Johan den Dunnen
00435484 Pat5 PubMed: Buck 2006 2-generation family, 1 affected, unaffected heterozygous parents (3rd degree cousins)/relatives - yes Italy - - - - - immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation see paper; ..., microcephaly; growth retardation; birdlike face, chromosomal alterations, bone marrow aplasia; recurrent respiratory tract infections; no autoimmunity 1 1 Johan den Dunnen
00435485 2BN cell line PubMed: Ahnesorg 2006 - - - - - - - - - IMD severe combined immunodeficiency, sensitivity to ionizing radiation, no microcephaly, mild developmental delay 1 1 Johan den Dunnen
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