Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 149A, Issue 11, Pages 2543-2546Publisher
WILEY
DOI: 10.1002/ajmg.a.33081
Keywords
PAX6; microophthalmia; aniridia; neonatal diabetes mellitus
Categories
Funding
- National Human Genome Research Institute
- National Institutes of Health
Ask authors/readers for more resources
We report on a patient with trisomy 21, microophthalmia, neonatal diabetes mellitus, hypopituitarism, and a complex structural brain anomaly who was a member of a large bilineal family with eye anomalies. The patient inherited a different mutation in PAX6 from each parent and is the only known living and second reported patient with compound heterozygosity for mutations in PAX6. PAX6 is a transcription factor involved in eye and brain development and has roles in pancreatic and pituitary development. Clinical evaluation of the propositus and his parents demonstrated the effects of mutations of differing severity in multiple individuals. Published 2009 Wiley-Liss, Inc.(dagger)
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available