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Weill-Marchesani Syndrome

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Carine Le Goff

Centre Hospitalo Universitaire Xavier Bichat
Female

Bio


Carine Le Goff is in Paris, France. Dr. Le Goff is highly experienced in treating patients with Weill-Marchesani Syndrome. They have been an author on 28 peer reviewed articles in the past 15 years. In particular, they have been an author on 3 peer reviewed articles regarding Weill-Marchesani Syndrome. Dr. Le Goff's top three areas of expertise are Geleophysic Dysplasia, Myhre Syndrome, and Brachydactyly.

Contact

Paris, FR

Latest Research


This doctor has not participated in any recent research.

Clinical Trials


This doctor has not participated in any recent clinical trials.

All Publications
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Publication
Study
  • Journal: Genetics in medicine : official journal of the American College of Medical Genetics
  • Published —
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Publication
Study
  • Journal: Human genetics
  • Published —
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Contact

Paris, FR

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