Finding of a Homozygous SLC26A3 Mutation in a German Newborn with Congenital Chloride Diarrhea Presenting with Polyhydramnios and Dilated Bowel Loops.

IF 0.9 4区 医学 Q3 PEDIATRICS Klinische Padiatrie Pub Date : 2025-01-01 Epub Date: 2024-10-15 DOI:10.1055/a-2407-2349
Philipp Fecher, Eric Frieauff, Rebecca Paul, Johannes Wirbelauer
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在一名患有先天性氯化物腹泻并伴有多水肿和肠套叠的德国新生儿体内发现同型 SLC26A3 基因突变
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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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