Epidermolysis bullosa and acrodermatitis enteropathica
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA594397
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资源简介：
This study is the coincidental occurrence of two genetic conditions on a consanguineous pedigree. The main message of this manuscript is that the patient has a successful treatment after therapy with zinc. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits.
创建时间：
2019-12-09
