Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

✍ Scribed by Johan L.K. Van Hove; Vicki Cunningham; Cathlin Rice; Steven P. Ringel; Qing Zhang; Ping-Chieh Chou; Cavatina K. Truong; Lee-Jun C. Wong

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 236 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32731