瓦登伯格综合征合并原发性闭经和身材矮小一例报道及文献复习
A case report of Waardenburg syndrome with primary amenorrhea and short stature， and a review of literature
瓦登伯格综合征合并原发性闭经和身材矮小一例报道及文献复习 |
| 姚昕, 李梦洁, 叶山东, 郑茂 |
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A case report of Waardenburg syndrome with primary amenorrhea and short stature， and a review of literature |
| YAO Xin, LI Mengjie, YE Shandong, ZHENG Mao |
| 图1 Sanger测序图验证患者存在SOX10基因杂合插入突变 |
| Figure 1 Sanger sequencing verified the presence of SOX10 heterozygous insertion mutation in the patient. |
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