Associated Papers
Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia.
Shen S et al.
Molecular Medicine Reports, 2021
Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.
Liu K et al.
The Journal of Investigative Dermatology, 2021
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.
Hörer S et al.
The Journal of Investigative Dermatology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function.
Nomikos M et al.
The Febs Journal, 2016
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Kiuru M et al.
American Journal of Human Genetics, 2011
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