METHODS FOR DIAGNOSING AND TREATING MYHRE SYNDROME
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United States of America Patent
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Sep 6, 2016
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Jul 27, 2011
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Abstract
The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting a mutation in SMAD4 gene, as compared to a control population, wherein the presence of said mutation is indicative of Myhre Syndrome or of a risk of Myhre Syndrome. The present invention also relates to an inhibitor of the SMAD4-mediated TGβ/BMP signalling pathway for use in the treatment of Myhre Syndrome.
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