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Severe ichthyosis in MPDU1-CDG.
J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.
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Publication type Article: Journal article
Document type Review
Institute(s) Institute of Human Genetics (IHG)