Vohwinkel syndrome with de novo heterozygous mutation in the GJB2 gene - c.175G>A (p. Gly59Ser).

IF 2.6 4区医学 Q2 DERMATOLOGY Anais brasileiros de dermatologia Pub Date : 2025-01-01 Epub Date: 2024-11-26 DOI:10.1016/j.abd.2023.01.010

María Caridad Duran-Lemarie, Luis Enrique Cano-Aguilar, Edmar Obed Benitez-Alonso, Dalia Cruz-Sotomayor, Uriel Villela-Segura, Hector Proy-Trujillo

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Vohwinkel 综合征，GJB2 基因从头突变，杂合突变 c.175G>A (p. Gly59Ser)。

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来源期刊

Anais brasileiros de dermatologia DERMATOLOGY-

CiteScore

2.40

自引率

0.00%

发文量

184

审稿时长

32 days

期刊介绍： The journal is published bimonthly and is devoted to the dissemination of original, unpublished technical-scientific study, resulting from research or reviews of dermatological topics and related matters. Exchanges with other publications may be accepted.

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