EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
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DOI: 10.1186/s13023-021-01744-1
Abstract: Background An identical homozygous missense variant in EIF3F , identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems… read more here.
Keywords: molecular spectrum; eif3f related; neurodevelopmental disorder; spectrum ... See more keywords