Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

• 作者Elizabeth A. Parker; Karine Hovanes; John Germak; Forbes Porter; Deborah P. Merke
• 期第20期
• 印刷ISSN1552-4825
• 电子ISSN1552-4833
• 文件大小129.31KB
• 发表时间2006
• DOI10.1002/ajmg.a.31408
• 页码2236-2240