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Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study

University Hospital, Brest · 2019
ClinicalTrials.gov · Datasets · License: Public Domain · 2019
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Noonan's syndrome is a rare genetic disease, estimated to be between 1: 1000 to 1: 2500 and characterized by cardiothoracic malformations, sometimes mental retardation, but also by hematologic abnormalities and joint involvement. These are poorly described in the literature. The aim of this work is therefore to describe the frequency and type of these manifestations in the French pediatric population and to compare patients with and without these disorders.
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