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Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46 XX Patients

2022-11-03

Abstract excerpt

<h4>Background: </h4> P450 oxidoreductase deficiency (PORD) affects cytochrome enzyme activities, causing various symptoms, such as adrenal insufficiency, disorders of sex development and skeletal malformations. This study aims to elucidate the clinical manifestations, genotype characteristics, diagnosis and management of 46 XX karyotype patients with PORD in China. Method The patients’ clinical characteristics w...

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Literature Corpus work
655ca1b5-d89e-54d9-9611-349ee861d58b
DOI
10.21203/rs.3.rs-2216072/v1
Open publication

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