Conradi-Hunermann syndrome: A rare case of chondrodysplasia punctata

• 主要な著者: Rajkumar Motiram Meshram (著者), Akhilesh A Dandale (著者), Lakshmikant A Rohadkar (著者), Ravi N Chirag (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Conradi-Hunermann syndrome is a common form of chondrodysplasia punctata, inherited as X-linked dominant disorder of cholesterol metabolism due to mutation of emopamil-binding protein gene resulting in a spectrum of skeletal, cutaneous, and ocular abnormalities. One-day-old premature, cesarean-deliv...