期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 149A, 期 11, 页码 2543-2546出版社
WILEY
DOI: 10.1002/ajmg.a.33081
关键词
PAX6; microophthalmia; aniridia; neonatal diabetes mellitus
资金
- National Human Genome Research Institute
- National Institutes of Health
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)
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