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Congenital Disorder of Glycosylation Type IIr
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that is caused by hemizygous mutation in the
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Overview
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that is caused by hemizygous mutation in the
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