Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

• 主要な著者: Bendon Charlotte L (著者), Fenwick Aimée L (著者), Hurst Jane A (著者), Nürnberg Gudrun (著者), Nürnberg Peter (著者), Wall Steven A (著者), Wilkie Andrew OM (著者), Johnson David (著者)
• フォーマット: 図書
• 出版事項: BMC, 2012-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to...