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

• Автори: Benjamin Eurich (Автор), Catharina Nitsche (Автор), Margot Lau (Автор), Britta Hanker (Автор), Juliane Spiegler (Автор), Guido Stichtenoth (Автор)
• Формат: Книга
• Опубліковано: MDPI AG, 2022-05-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...