Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

✍ Scribed by Marco Castori; Marco Ritelli; Nicoletta Zoppi; Luisa Molisso; Nicola Chiarelli; Fulvio Zaccagna; Paola Grammatico; Marina Colombi

• Book ID: 111995109
• Publisher: John Wiley and Sons
• Year: 2012
• Tongue: English
• Weight: 505 KB
• Volume: 158A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.35266