✦ LIBER ✦

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

✍ Scribed by Tanya M. Bardakjian; Simon Kwok; Anne M. Slavotinek; Adele S. Schneider

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 87 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33492

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Evidence for a recurrent microdeletion a

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

✍ Matthew G. Sampson; Curtis R. Coughlin II; Paige Kaplan; Laura K. Conlin; Kevin 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 1 views

A novel de novo microdeletion spanning t

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

✍ Ana Cristina V. Krepischi; Carla Rosenberg; Silvia S. Costa; John A. Crolla; Shu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views