Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.
Zeng F et al.
Metabolites, 2022
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.
Ahmad F et al.
Molecular Syndromology, 2021
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD et al.
The British Journal of Dermatology, 2017
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
Dökmeci-Emre S et al.
The Turkish Journal of Pediatrics, 2017
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