Severe ichthyosis in MPDU1‐CDG

作者：Christian Thiel; Saskia Wortmann; Korbinian Riedhammer; Bader Alhaddad; Ertan Mayatepek; Holger Prokisch; Felix Distelmaier

来源：Journal of Inherited Metabolic Disease, 2018, 41(6): 1293-1294.

DOI：10.1007/s10545-018-0189-9

Abstract(#br)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 manifesta...

• 单位
  University of heidelberg; University of Heidelberg