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Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

作者信息

Bernard Pauline, Pell Nuria, Mazereeuw-Hautier Juliette, Jonca Nathalie

机构信息

Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, France.

Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France.

出版信息

Acta Derm Venereol. 2025 Jan 3;105:adv42502. doi: 10.2340/actadv.v105.42502.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/d5d1a6e05239/ActaDV-105-42502-g001.jpg

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