Associated Papers
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K et al.
American Journal of Medical Genetics. Part A, 2020
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.
Polubothu S et al.
The British Journal of Dermatology, 2018
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