Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

Title
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Authors
Keywords
Formylglycine generating enzyme, Ichthyosis, Multiple sulfatase deficiency, Sulfatase, SUMF1
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 121, Issue 3, Pages 252-258
Publisher
Elsevier BV
Online
2017-05-22
DOI
10.1016/j.ymgme.2017.05.013

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