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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathologyPhenotypic SpectrumMolecular GeneticsDisease Gene IdentificationMedicineGenetic MedicineClinical Genetics