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Updated: Jun 14, 2025

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扩展的MNS1异质性表现型

Julien Maraval1,2, Andrée Delahaye-Duriez3,4,5, Caroline Racine1,2

  • 1Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.

American journal of medical genetics. Part A
|September 5, 2024
PubMed
概括

与MNS1相关的疾病的新病例揭示了化特异性核结构蛋白-1基因的新型变异,扩大了对影响乳毛和精子发育的这种罕见遗传疾病的理解.

关键词:
在MNS1中,MNS1是MNS1.胎儿的胎儿是一个胎儿.异质氧化物是不同的.现象型 现象型 是一种现象型.在产前产前产前.这是一种衰退式的衰退式.

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