A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

• Main Authors: Tuğba Daşar (Author), Sandra Donkervoort (Author), Pelin Özlem Şimşek Kiper (Author), Rahşan Göçmen (Author), Gülen Eda Utine (Author), Koray Boduroğlu (Author), Carsten Bonnemann (Author), Göknur Haliloğlu (Author)
• Format: Book
• Published: Galenos Yayinevi, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is characterized by congenital malformations and contractu...