Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association

IF 3.5 3区 医学 Q1 DERMATOLOGY Experimental Dermatology Pub Date : 2024-11-25 DOI:10.1111/exd.70012
Giulia Pascolini, Giovanni Luca Scaglione, Feliciana Mariotti, Paola Concolino, Angelo Minucci, Biagio Didona, Daniele Castiglia, Giovanni Di Zenzo
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在一名患有掌跖角化病和毛发症的儿童身上发现的去鳞屑蛋白(DSP)c.273+5G > A 变体的剂量依赖性表型效应证据
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来源期刊
Experimental Dermatology
Experimental Dermatology 医学-皮肤病学
CiteScore
6.70
自引率
5.60%
发文量
201
审稿时长
2 months
期刊介绍: Experimental Dermatology provides a vehicle for the rapid publication of innovative and definitive reports, letters to the editor and review articles covering all aspects of experimental dermatology. Preference is given to papers of immediate importance to other investigators, either by virtue of their new methodology, experimental data or new ideas. The essential criteria for publication are clarity, experimental soundness and novelty. Letters to the editor related to published reports may also be accepted, provided that they are short and scientifically relevant to the reports mentioned, in order to provide a continuing forum for discussion. Review articles represent a state-of-the-art overview and are invited by the editors.
期刊最新文献
Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association Generating Skin-Derived Precursor-Like Cells From Human-Induced Pluripotent Stem Cell-Derived Skin Organoids Construction of ceRNA Network and Disease Diagnosis Model for Keloid Based on Tumor Suppressor ERRFI1 Lysophosphatidylcholine Acyltransferase 2 Contributes to Increased Allergic and Irritant Inflammation in Mice Disabled 2 (Dab2) Regulates Tumour Progression in Skin Squamous Cell Carcinoma
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