Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

摘要

The clinical features of the proband with Cutis laxa. a Shows the infant’s hand with a thinning of the skin and visible veins; b shows dysmorphic facial features; c, e, f show thinning of the skin with poor elasticity, dryness, as well as small wrinkles on the bottom of feet; d shows an umbilical hernia