Autosomal recessive cutis laxa Type II: Report of novel mutation in a child

• 主要な著者: Rakesh Kumar (著者), Sheetal Sharda (著者), Vimlesh Soni (著者), Kaniyappan Nambiyar (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2017-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel...