Neonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with FHL2 variant: a case report suggesting possible novel phenotypes.

A male infant with fetal hydrops was diagnosed with congenital dilated cardiomyopathy and died at 2 months despite intensive treatment. Trio-exome sequencing identified as de novo FHL2 variant (p.Arg131Cys). He also presented with non-cardiogenic cho…

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