作者: Valerie Cormier-Daire , Carine Le Goff , Arnold Munnich
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摘要: The present invention relates to methods for diagnosing and treating Myhre Syndrome. provides a method or predicting Syndrome, risk of in subject, which comprises detecting mutation SMAD4 gene, as compared control population, wherein the presence said is indicative Syndrome also an inhibitor SMAD4-mediated TGFβ/BMP signalling pathway use treatment