Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

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 ac...

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Vydáno v:Hum Genome Var
Hlavní autoři: Tsuge, Ikuya, Morishita, Masashi, Kato, Takema, Tsutsumi, Makiko, Inagaki, Hidehito, Mori, Yuji, Yamawaki, Kazuo, Inuo, Chisato, Ieda, Kuniko, Ohye, Tamae, Hayakawa, Akinori, Kurahashi, Hiroki
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
Témata:
Data Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785586/
https://ncbi.nlm.nih.gov/pubmed/27081519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.3
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