lunes, 21 de noviembre de 2016

Are there any PURA Syndrome families here? - RareConnect Discussion Groups

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Are there any PURA Syndrome families here? - RareConnect Discussion Groups
RARECONNECT

Are there any PURA Syndrome families here?

What is PURA syndrome and how is it caused?
PURA syndrome is a recently discovered rare genetic condition. It occurs when one of a person’s two copies of the PURA gene does not function normally. The PURA gene is on chromosome 5. It has a number of different roles, but is known to be particularly important in brain development. This is why problems with the PURA gene are primarily associated with a neurodevelopmental disorder. We currently know of 65 cases of PURA Syndrome worldwide but are trying to find more families....
Find us at purasyndrome.org

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