Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.
Kamal A et al.
The American Journal of Case Reports, 2023
Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.
Narta K et al.
Genes, 2023
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