Akinori Hayakawa

Kuniko Ieda1
Tamae Ohye1
Hiroki Kurahashi1
1Kuniko Ieda
1Tamae Ohye
1Hiroki Kurahashi
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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(More)
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