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中文Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development
Alias:
46,xx Testicular Dsd
46,xx Testicular Difference of Sex Development
46,xx Testicular Disorder of Sex Development
Xx Male Syndrome
Nonsyndromic 46,xx Testicular Disorder/difference of Sex Development
De La Chapelle Syndrome
Xx, Male Syndrome
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非综合征性46,xx睾丸疾病/性发育差异，也称为46,xx睾丸dsd，与46,xx性反转1和46,xx性反转有关。与非综合征性46,xx睾丸疾病/性发育差异有关的重要基因是NR5A1（核受体亚家族5组A成员1），其相关通路/超级通路包括WNT信号传导和核受体。相关组织包括睾丸和乳腺，相关表型包括多囊卵巢和睾丸体积减小。
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