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- W2176479077 abstract "Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia." @default.
- W2176479077 created "2016-06-24" @default.
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- W2176479077 date "2016-04-24" @default.
- W2176479077 modified "2023-09-27" @default.
- W2176479077 title "NovelPORCNmutation in a severe case of Focal Dermal Hypoplasia" @default.
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- W2176479077 doi "https://doi.org/10.1111/cga.12146" @default.
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