Title: 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
Journal: BMC Medical Genetics
Publication type: article
DOI: 10.1186/1471-2350-14-13