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

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.