Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

✍ Scribed by N.C. Voermans; M. Kempers; M. Lammens; N. van Alfen; M.C. Janssen; C. Bönnemann; B.G. van Engelen; B.C. Hamel

• Book ID: 111995081
• Publisher: John Wiley and Sons
• Year: 2012
• Tongue: English
• Weight: 230 KB
• Volume: 158A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.35232