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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Neurodegenerative DiseasesMendelian DisorderDysosteosclerosis-pyle Disease SpectrumBrain MalformationGeneticsNeurological DisorderGenetic DisorderPathologyDegenerative DiseaseNeurologyDisease Gene IdentificationDegenerative EncephalopathyNeuropathologyMedicine