Article
Hoffman syndrome: New patients, new insights.
American journal of medical genetics. Part A - 1 Jan 2011
Hügle Boris, Hoffman Hal, Bird Lynne M, Gebauer Corinna, Suchowerskyj Philipp, Sack Ulrich, Kohlhase Jürgen, Schuster Volker
Abstract excerpt
Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X-linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl,...
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