Article
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
PloS one - 1 Jan 2014
Stewart Douglas R, Pemov Alexander, Johnston Jennifer J, Sapp Julie C, Yeager Meredith, He Ji, Boland Joseph F, Burdett Laurie, Brown Christina, Gatti Richard A, Alter Blanche P, Biesecker Leslie G, Savage Sharon A
Abstract excerpt
Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome,...
Topics
Join the communities discussing this publication.