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    1. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    2. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    3. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    4. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    5. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    6. Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations Scientific reports · 2018 · 58 citations
    7. Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle British Journal of Dermatology · 2014 · 25 citations
    8. Decay of Skin-Specific Gene Modules in Pangolins Journal of molecular evolution · 2023 · 1 citations
    9. Convergent Decay of Skin-specific Gene Modules in Pangolins bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 1 citations
    10. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
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