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    1. Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis British Journal of Dermatology · 2013 · 23 citations
    2. Autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy Veterinary dermatology · 2016 · 9 citations
    3. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    4. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study Veterinary dermatology · 2018 · 5 citations
    5. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    6. 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis Journal of Investigative Dermatology · 2024
    7. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    8. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    9. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    10. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
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