Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants

• Main Authors: Benjamin Eurich (Author), Catharina Nitsche (Author), Margot Lau (Author), Britta Hanker (Author), Juliane Spiegler (Author), Guido Stichtenoth (Author)
• 格式: 圖書
• 出版: MDPI AG, 2022-05-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been...