Last Updated: 09/26/2026
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Found 2 publications
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
Journal: American journal of medical genetics. Part A
Published: May 21, 2017
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
Journal: Clinical dysmorphology
Published: April 12, 2014
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Last Updated: 09/26/2026