关键词: EFTUD2 MFDM Mandibulofacial dysostosis with microcephaly Seizure Spliceosome
Mesh : Brain / diagnostic imaging Child DNA Mutational Analysis Developmental Disabilities / diagnostic imaging genetics physiopathology Diagnosis, Differential Face / pathology Humans Magnetic Resonance Imaging Male Mandibulofacial Dysostosis / diagnostic imaging genetics physiopathology Microcephaly / diagnostic imaging genetics physiopathology Peptide Elongation Factors / genetics Ribonucleoprotein, U5 Small Nuclear / genetics Seizures / diagnostic imaging genetics physiopathology
来 源: DOI:10.1016/j.braindev.2016.08.008