Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Authors: Anna Sowińska-Seidler, Monika Piwecka, Ewelina Olech, Magdalena Socha, Anna Latos-Bieleńska, Aleksander Jamsheer
Published in: Journal of Applied Genetics
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q3