Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency.

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. Clin Genet. 2018 Feb 08;: Authors: Monies D, Anabrees J, Ibrahim N, Elbardisy H, Abouelhoda M, Meyer BF, Alkuraya FS PMID: 29417556 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29417556?dopt=Abstract

Source: Clinical Genetics - February 8, 2018 Category: Genetics & Stem Cells Authors: Monies D, Anabrees J, Ibrahim N, Elbardisy H, Abouelhoda M, Meyer BF, Alkuraya FS Tags: Clin Genet Source Type: research

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