A regular expression is a pattern that the regular expression engine attempts to match in input text. A pattern consists of one or more character literals, operators, or constructs. For a brief introduction, see .NET Framework Regular Expressions.
(For our list of subjects with an imprinting defect, click here.). UBE3A Mutation. Malfunction of the UBE3A gene on the maternal chromosome #15 seems to be the cause of Angelman syndrome. In the case of a UBE3A mutation, there is a mistake in the genetic code of the UBE3A gene.
Proteus syndrome is a rare condition caused by a mutated gene called PTEN. So researchers in England enlisted the help of Dr. Charis Eng, Director of the Division of Human Genetics at Ohio State University. She is one of the world's leading experts on PTEN. Dr. Eng tested Merrick's DNA in search of a link. We sat down with her to find out more about it: Q: Where did you get the idea that Proteus syndrome, one of the diseases Joseph Merrick was afflicted with, could be caused by a mutated PTEN gene?