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Gould syndrome - COL4a1 / COL4a2

Gould syndrome - COL4a1 / COL4a2


Contact: Genetic Alliance Australia
Tel: +61 2 9295 8359
Email: info@geneticalliance.org.au
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More info: C/- Garvan Institute of Medical Research
Level 6
384 Victoria Street
Darlinghurst, NSW 2010
About: From the Gould Syndrome Foundation web site:
Gould Syndrome is a rare, genetic, multi-system disorder. Gould Syndrome is often characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized.
Useful links:

Gould Syndrome Foundation: www.gouldsyndromefoundation.org

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