Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

Karthik Muthusamy, Erica L. Macke, Eric W. Klee, Peter J. Tebben, Jennifer L. Hand, Linda Hasadsri, Cherisse A. Marcou, Lisa A. Schimmenti

Research output: Contribution to journal › Article › peer-review

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