Clinical utility gene card for: acrodermatitis enteropathica – update 2015

Sébastien Küry,Monia Kharfi, Eric Blouin,Sébastien Schmitt,Stéphane Bézieau

EUROPEAN JOURNAL OF HUMAN GENETICS（2015）

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摘要

1. Name of the disease (synonyms) Acrodermatitis enteropathica (AEZ). 2. OMIM# of the disease 201100. 3. Name of the analyzed genes or DNA/chromosome segments SLC39A4. 4. OMIM# of the gene(s) 607059. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the SLC39A4 gene in diagnostic settings and for risk assessment in relatives.

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关键词

EJHG, human genetics, DNA diagnosis, cytogenetics, clinical genetics, molecular genetics, linkage studies

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