Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma
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| Format: | Article |
| Language: | English |
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Medical Journals Sweden
2025-01-01
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| Series: | Acta Dermato-Venereologica |
| Subjects: | |
| Online Access: | https://medicaljournalssweden.se/actadv/article/view/42502 |
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| _version_ | 1841560970271391744 |
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| author | Pauline Bernard Nuria Pell Juliette Mazereeuw-Hautier Nathalie Jonca |
| author_facet | Pauline Bernard Nuria Pell Juliette Mazereeuw-Hautier Nathalie Jonca |
| author_sort | Pauline Bernard |
| collection | DOAJ |
| format | Article |
| id | doaj-art-74024be53b184d68ace52aecc671f5d3 |
| institution | Kabale University |
| issn | 0001-5555 1651-2057 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Medical Journals Sweden |
| record_format | Article |
| series | Acta Dermato-Venereologica |
| spelling | doaj-art-74024be53b184d68ace52aecc671f5d32025-01-03T08:46:01ZengMedical Journals SwedenActa Dermato-Venereologica0001-55551651-20572025-01-0110510.2340/actadv.v105.42502Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar KeratodermaPauline Bernard0Nuria Pell1Juliette Mazereeuw-Hautier2Nathalie Jonca3Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, FranceInfinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, FranceReference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, France; Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, FranceInfinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, Francehttps://medicaljournalssweden.se/actadv/article/view/42502autosomal recessive congenital ichthyosispalmoplantar keratodermaABCA12genetic variantmolecular genetic diagnostics |
| spellingShingle | Pauline Bernard Nuria Pell Juliette Mazereeuw-Hautier Nathalie Jonca Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma Acta Dermato-Venereologica autosomal recessive congenital ichthyosis palmoplantar keratoderma ABCA12 genetic variant molecular genetic diagnostics |
| title | Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma |
| title_full | Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma |
| title_fullStr | Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma |
| title_full_unstemmed | Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma |
| title_short | Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma |
| title_sort | novel abca12 missense variant in a patient with congenital ichthyosis and palmoplantar keratoderma |
| topic | autosomal recessive congenital ichthyosis palmoplantar keratoderma ABCA12 genetic variant molecular genetic diagnostics |
| url | https://medicaljournalssweden.se/actadv/article/view/42502 |
| work_keys_str_mv | AT paulinebernard novelabca12missensevariantinapatientwithcongenitalichthyosisandpalmoplantarkeratoderma AT nuriapell novelabca12missensevariantinapatientwithcongenitalichthyosisandpalmoplantarkeratoderma AT juliettemazereeuwhautier novelabca12missensevariantinapatientwithcongenitalichthyosisandpalmoplantarkeratoderma AT nathaliejonca novelabca12missensevariantinapatientwithcongenitalichthyosisandpalmoplantarkeratoderma |