/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A
Cardiovasc Genet, J. V. van Tintelen, E. Hoorntje et al.
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Open access
Jul 2026
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series
A retrospective multicenter case series of seven previously unreported individuals with heterozygous FBXW7 variants identified through clinical genetic testing expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance.
Salvatore Savasta, F. Comisi, G. Dell’Isola et al.
· Journal of Neurodevelopmenta... · 0 citations