Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Authors: Sowińska-Seidler Anna, Badura-Stronka Magdalena, Latos-Bieleńska Anna, Stronka Michał, Jamsheer Aleksander
Published in: Birth Defects Res A Clin Mol Teratol.
Publication type: article