https://www.selleckchem.com/
A variant of undetermined significance was found in a patient with global developmental delays, hypotonia, with abnormal eye movements. In one patient WES was non-diagnostic. This result highlights the high yield of WES in carefully selected patients with a neurologic disease and the need for increase access to genetic testing in resource limited settings globally.Macrophage activation syndrome (MAS) is a rare immunologic syndrome, rapidly fatal in the absence of specific etiological treatment. It is defined by clinical, biological and cyto-histological cri
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