Delayed Diagnosis of adrenogenital Syndrome in compound heterozygous Status for the rare Mutation p.E341K and inefficient Chimeric Gene (CYP21A1P exon 1-3 and CYP21A2 exon 4-10)-论文-万方医学网

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Delayed Diagnosis of adrenogenital Syndrome in compound heterozygous Status for the rare Mutation p.E341K and inefficient Chimeric Gene (CYP21A1P exon 1-3 and CYP21A2 exon 4-10)

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第一作者： Comploj, S.

作者： Comploj, S. ^[1] ; Segerer, S. E. ^[2] ; Machemer, U. ^[3] ; Junginger, S. ^[4] ; Beyer, U. ^[5] ; Theusner, S.

作者单位： Amedes Hamburg, Endokrinol Gynakol & Geburtshilfe, Hamburg, Germany ^[1] Amedes Hamburg, Endokrinol Gynokal & Reprod Med, Hamburg, Germany ^[2] Endokrinologikum Hamburg, Innere Med, Hamburg, Germany ^[3] Amedes Genet, Mol Genet, Hannover, Germany ^[4] Endokrinologikum Hamburg, Humangenet, Hamburg, Germany ^[5]

发布时间 2022-09-10

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Delayed Diagnosis of adrenogenital Syndrome in compound heterozygous Status for the rare Mutation p.E341K and inefficient Chimeric Gene (CYP21A1P exon 1-3 and CYP21A2 exon 4-10)

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Delayed Diagnosis of adrenogenital Syndrome in compound heterozygous Status for the rare Mutation p.E341K and inefficient Chimeric Gene (CYP21A1P exon 1-3 and CYP21A2 exon 4-10)

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