Original paper
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
Abstract
Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale at birth and lifelong atopic diathesis. Here, we describe the first Japanese case of IPS and report novel compound heterozygous mutations (p.C403Y and p.R510H) in fatty acid transport protein 4 (FATP4). She is the first reported patient of Asian origin, entirely distinct from the Scandinavian population, in whom the...
Paper Details
Title
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
Published Date
Feb 12, 2015
Journal
Volume
2
Issue
1
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Notes
History