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

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

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology