Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
Authors: Aleksander Jamsheer, Ewelina M. Olech, Kazimierz Kozłowski, Marek Niedziela, Anna Sowińska-Seidler, Monika Obara-Moszyńska, Anna Latos-Bieleńska, Marek Karczewski, Tomasz Zemojtel
Published in: Journal of Human Genetics
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q2