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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

机译：CYP17A1基因纯合突变引起的17α-羟化酶/ 17,20-裂合酶缺乏症引起的性发育的46，XY障碍：晚期诊断的后果

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Context Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.

机译：背景由于先天性肾上腺皮质增生（CAH）是肾上腺类固醇生成途径中特定的酶缺陷，是一种常染色体隐性遗传疾病。

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期刊名称 Case Reports in Endocrinology
作者
Giampaolo Papi; Rosa Maria Paragliola; Paola Concolino; Carlo Di Donato; Alfredo Pontecorvi; Salvatore Maria Corsello;
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作者单位

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年(卷),期 1912(2018),
年度 1912
页码 2086861
总页数 6
原文格式 PDF
正文语种
中图分类基础医学 ;
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1. 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis [J] . Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Case Reports in Endocrinology . 2018 ,第2期

机译：CYP17A1基因纯合突变引起的17α-羟化酶/ 17,20-酶缺乏导致的性发育的46，XY障碍：晚期诊断的后果
2. Loss of Cytochrome P450 17A1 Protein Expression in a 17α-Hydroxylase/17,20-Lyase-Deficient 46,XY Female Caused by Two Novel Mutations in the CYP17A1 Gene [J] . Nayelli Nájera, Nayely Garibay, Yadira Pastrana, Endocrine Pathology . 2009 ,第4期

机译：CYP17A1基因的两个新突变引起的17α-羟化酶/ 17,20-裂解酶缺陷的46，XY女性中细胞色素P450 17A1蛋白表达的损失
3. Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene. [J] . Najera N, Garibay N, Pastrana Y, Endocrine pathology . 2009 ,第4期

机译：CYP17A1基因的两个新突变引起的17α-羟化酶/ 17,20-裂合酶缺陷型46，XY雌性细胞色素P450 17A1蛋白表达的损失。
4. A Missense Mutation in the Human Cytochrome b5 Gene causes 46XY Disorder of Sex Development due to True Isolated 1720 Lyase Deficiency [O] . Jan Idkowiak, Tabitha Randell, Vivek Dhir, -1

机译：人类细胞色素b5基因的错义突变由于真正分离的1720裂解酶缺乏症而导致46XY性发育障碍
5. A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency [O] . Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, 2012

机译：人类细胞色素b5基因的错义突变由于真正分离出的17,20裂解酶缺乏症而导致46，XY性发育障碍

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

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