Article
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome.
American journal of medical genetics. Part A - 30 Apr 2004
von Bubnoff Dagmar, Kreiss-Nachtsheim Martina, Novak Natalija, Engels Eva, Engels Hartmut, Behrend Claudia, Propping Peter, de la Salle Henri, Bieber Thomas
Abstract excerpt
We describe a 34-year-old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, dist...
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