Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia.
Shen S et al.
Molecular Medicine Reports, 2021
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Kiuru M et al.
American Journal of Human Genetics, 2011
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