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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
Laboratoire de recherches Intégratives en Neurosciences et psychologie Cognitive UR-LINC
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
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A clinical scoring system for congenital contractural arachnodactyly
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome