Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

✍ Scribed by Benjamin D. Solomon; Daniel E. Pineda-Alvarez; Joan Z. Balog; Donald Hadley; Andrea L. Gropman; Radha Nandagopal; Joan C. Han; Jin S. Hahn; Delphine Blain; Brian Brooks; Maximilian Muenke

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 155 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33081