Tuesday, January 29, 2013

An interesting read.

http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html

When I referred to Cam "is said to have" PTEN Macrocephaly Autism, I referred to it this way because it almost seemed that the doctor was trying to put a name to the condition.  From what I read I get the impression that PTEN gene alterations have many syndromes linked to them - is this to do with the specific way in which the gene is altered??  Maybe.  The link above is to an article suggesting that all cases of PTEN gene alterations be "labelled" with a particular name.  These cases must be still evolving in the medical world - lots to learn yet.

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