All individuals with variants in gene RAC2

14 entries on 1 page. Showing entries 1 - 14.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00414602 family PubMed: Alkhairy 2015 2 generation family, affected sister/brother, unaffected heterozygous carrier mother, first-degree consanguineous parents F yes Iran - - - - - IMD see paper; ..., common variable immunodeficiency, glomerulonephritis, coagulopathy, multiple hormone deficiencies, abnormalities neutrophil granules; 21y-died of graft rejection and possible cerebral hemorrhage 1 2 Johan den Dunnen
00414603 patient PubMed: Ambruso 2000, PubMed: Williams 2000 2 generation family, 1 affected, unaffected non carrier parents M - United States - - - - - IMD see paper; ..., 5w-perirectal abscess, failure umbilical stump to involute; 5m-recurrent perirectal abscesses, infected urachal cyst, failure to heal surgical wounds, absence of pus in infected areas 1 1 Johan den Dunnen
00414604 patient PubMed: Accetta 2011 2 generation family, 1 affected, unaffected non carrier parents M no United States - - - - - IMD - 1 1 Johan den Dunnen
00414605 patient PubMed: Roos 2021 - - - - - - - - - IMD - 1 1 Johan den Dunnen
00414606 Pat1 PubMed: Hsu 2019 - F - United States - - - - - IMD see paper; ... 1 1 Johan den Dunnen
00414607 Pat2 PubMed: Hsu 2019 - F - United States - - - - - IMD see paper; ... 1 1 Johan den Dunnen
00414608 Pat3 PubMed: Hsu 2019 - M - United States - - - - - IMD see paper; ... 1 1 Johan den Dunnen
00414609 family PubMed: Roos 2020 3-generation family, affected boy, father, grandfather M no Netherlands - - - - - IMD see paper; ... 1 3 Johan den Dunnen
00414610 patient PubMed: Sharapova 2019 2 generation family, 1 affected, unaffected non carrier mother F no Ukraine - - - - - IMD see paper; ..., recurrent respiratory infections, lung disease, susceptibility to varicella and herpetic infections 1 1 Johan den Dunnen
00414611 family PubMed: Lougaris 2019 2-generation family, affected father and 2 daugthers F;M no - - - - - - IMD see paper; ... 1 3 Johan den Dunnen
00414613 patient PubMed: Lagresle-Peyrou 2021 2 generation family, 1 affected, unaffected non carrier parents M - France - - - - - IMD see paper; ... 1 1 Johan den Dunnen
00414614 family 2 generation family, affected mother/daughter - F - France - - - - - IMD see paper; ... 1 2 Johan den Dunnen
00414615 patient PubMed: Stern 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - SCID see paper; ..., temperature instability, hyperbilirubinemia, agranulocytosis, severe lymphopenia without associated anemia or thrombocytopenia 1 1 Johan den Dunnen
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