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: Sowińska-Seidler Anna, Piwecka Monika, Olech Ewelina, Socha Magdalena, Latos-Bieleńska Anna, Jamsheer Aleksander
Published in: Journal of Applied Genetics
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q3