Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects von Woutsas, Stavroula, Aytekin, Caner, Salzer, Elisabeth, Conde, Cecilia Domínguez, Apaydin, Sema, Pichler, Herbert, Memaran-Dadgar, Nima, Hosnut, Ferda Ozbay, Förster-Waldl, Elisabeth, Matthes, Susanne, Huber, Wolf-Dietrich, Lion, Thomas, Holter, Wolfgang, Bilic, Ivan, Boztug, Kaan

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A novel immunodeficiency syndrome associated with partial trisomy 19p13 von Seidel, Markus G, Duerr, Celia, Woutsas, Stavroula, Schwerin-Nagel, Anette, Sadeghi, Kambis, Neesen, Jürgen, Uhrig, Sabine, Santos-Valente, Elisangela, Pickl, Winfried F, Schwinger, Wolfgang, Urban, Christian, Boztug, Kaan, Förster-Waldl, Elisabeth

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