Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C

✍ Scribed by Vogt, Julie; Agrawal, Shakti; Ibrahim, Zala; Southwood, Taunton R.; Philip, Sunny; MacPherson, Lesley; Bhole, Malini V.; Crow, Yanick J.; Oley, Christine

• Book ID: 118751194
• Publisher: John Wiley and Sons
• Year: 2013
• Tongue: English
• Weight: 126 KB
• Volume: 161
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.35712