Mutations in <i>LTBP3</i> cause acromicric dysplasia and geleophysic dysplasia

Abstract

The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype. We conclude that LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum.