Article
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
American journal of medical genetics. Part A - 1 Feb 2016
van Koningsbruggen Silvana, Knoester Hennie, Bakx Roel, Mook Olaf, Knegt Lia, Cobben Jan Maarten
Abstract excerpt
We report on a boy with a neonatal short limb skeletal dysplasia with serious medical complications, associated with one intragenic and one complete deletion of XYLT1. XYLT1 mutations have recently been reported as causative in recessive Desbuquois skeletal dysplasia (DBSD), but the skeletal features in our patient do not fit this diagnosis. It is possible that the phenotype of XYLT1 mutations extends to more...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.