Ichthyosis Follicularis With Atrichia And Photophobia (IFAP) Syndrome: A Study On Genetic Mutation In A Japanese Patient
January 2011
in “
Journal of Human Genetics
”
Studysummary This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
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