Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report

• 主要な著者: Amna Iftikhar (著者), Kathleen Barnes (著者), Melissa Figueroa (著者), Antonia P. Francis (著者)
• フォーマット: 図書
• 出版事項: Thieme Medical Publishers, Inc., 2024-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultra...