Genes, Vol. 10, Pages 967: Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type.

Source: Genes - November 24, 2019 Category: Genetics & Stem Cells Authors: Lucia Micale Vito Guarnieri Bartolomeo Augello Orazio Palumbo Emanuele Agolini Valentina Maria Sofia Tommaso Mazza Antonio Novelli Massimo Carella Marco Castori Tags: Article Source Type: research