遇见数据集

Epidermolysis bullosa and acrodermatitis enteropathica

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NIAID Data Ecosystem2026-03-12 收录
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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.

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2021-03-31
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