subtelomeric microduplication and microdeletion

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

Journal of Medical Genetics Apr 2014, 51 (4) 254-263; DOI: 10.1136/jmedgenet-2013-102122

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subtelomeric microduplication and microdeletion