Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Mai Abd El SalamKhaled SalamaYasmeen M M SelimMariam SaadRasha RadySalem AlawbathaniSabine SchroederMohamed A ElmonemNour ElkhateebPublished in: Annals of human genetics (2023)
This family emphasizes the importance of whole-exome sequencing for familial cases with complex phenotypes and vague neurological manifestations.