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Physiologie, Neurosciences et Comportement
Psychologie Cognitive et Neuropsychologie
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
Laboratoire de recherches Intégratives en Neurosciences et psychologie Cognitive UR-LINC
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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
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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
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
