Article

Genetic Spectrum and Clinical Characteristics of 3β-hydroxy-Δ5-C27-steroid Oxidoreductase (HSD3B7) Deficiency in China

2021-05-21

Abstract excerpt

<title>Abstract</title> <bold>Background </bold>Biallelic variants in <italic>HSD3B7</italic> cause 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. Genetic and correlated clinical information is limited. We retrospectively reviewed the records of 39 unrelated patients with genetically confirmed HSD3B7 deficiency. <bold>Results<...

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Literature Corpus work: 479a506b-c0f3-57f1-86b0-4de9ae868c30
DOI: 10.21203/rs.3.rs-488210/v1

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Genetic Spectrum and Clinical Characteristics of 3β-hydroxy-Δ5-C27-steroid Oxidoreductase (HSD3B7) Deficiency in ChinaDOI 10.21203/rs.3.rs-488210/v1Read

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