Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF
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Researchers are studying the clinical and molecular spectrum associated with variants in CENPF, which is linked to Strømme syndrome. However, some findings suggest that biallelic variants in CENPF may cause a distinct phenotype, separate from Strømme syndrome. The relationship between CENPF variants and Strømme syndrome is still being clarified.