PMC7751611_01
Mutations on ELN gene associated to SVAS. (A) Schematic representation of the ELN gene and the mutations associated with SVAS and Cutis Laxa showing the location of the reported mutations (B) Family pedigree. Reported case and different phenotypes in the family.
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Additionally, the proband s paternal half-sister died at age 3 with asymptomatic pulmonary stenosis and epilepsy (Figure 1B).
Skin biopsy, scapular region. H&E 10X.
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At the age of nine, a skin biopsy was performed, which showed no significant alterations (Figure 2).