与 DYNC2H1 的复发性错义变异有关的轻度 Jeune 综合征病例:基因型与表型相关性的确认。

IF 1.2 4区 医学 Q3 PEDIATRICS Klinische Padiatrie Pub Date : 2024-02-01 Epub Date: 2024-01-15 DOI:10.1055/a-2235-6201
Marc-Alexander Oestreich, Fabian Keller, Xenia Bovermann, Dominique Braun, Rike Schiller, Luigi Raio, Christiane Zweier, Carmen Casaulta, Jakob Usemann, André Kidszun, Mircea-Horia Popa-Todirenchi
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A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.
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来源期刊
Klinische Padiatrie
Klinische Padiatrie 医学-小儿科
CiteScore
1.10
自引率
0.00%
发文量
135
审稿时长
6-12 weeks
期刊介绍: Das Forum für wissenschaftliche Information in der Kinderheilkunde ausgewählte Originalarbeiten aus allen Bereichen der Pädiatrie Visite: Ihr Forum für interessante Krankengeschichten und außergewöhnliche Kasuistiken aktuelle Fortschritte in Diagnostik und Therapie jährliche Schwerpunkthefte: Ergebnisse der pädiatrischen Onkologie plus Medizin und Markt topaktuelle Informationen aus der Industrie
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