Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
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DOI: 10.1002/mgg3.682
Abstract: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. read more here.
Keywords: individual carrying; novo missense; missense variant; retinal dystrophy ... See more keywords