Leprechaunism
Title: Leprechaunism
Category: Science & Technology | Words: 1601 | Pages: 6.8 (approximately 235 words/page)
Leprechaunism
“Leprechaunism”
Leprechaunism is an extremely rare genetic disease that was first identified in 1948 by W.L. Donohue. There have only been 49 cases reported worldwide since is first reporting in 1948 until 1987. This disease is also known as Donohue Syndrome, in his honor.
Most Leprechaunism patients die by the age of 10 months, although there have been cases of patients living until 11 years of age. This is because several different mutations in the insulin receptor gene can cause
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Leprechaunism. Online. Internet: www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?246200
Nakae J, Kato M, Murashita M, Shinohara N, Tajima T, Fujieda K. J Clin
Endocrinogic Metabolism 1998 Feb;83(2):542-9
NORD: National Organization for Rare Disorders: Disease Information:
Leprechaunism. Online. Internet: http://206.105.18.10/nord/rdb_sum/387.htm
OMIM: Online Mendelian Inheritance in Man. Disease Entry: I147670 Insulin
Receptor; INSR. Online. Internet:
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147670#TEXT
www.vghtpe.gov.tw/~meta/dmclass.htm
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