Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
Authors: Aleksander Jamsheer, Anna Sowińska, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska
Published in: BMC Medical Genetics
Publication type: article
Subject areas: Agricultural and Biological Sciences
SJR best quartile: Q2