Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency - Jamsheer, A; Olech, E M; Kozlowski, K; Niedziela, M; Sowinska-Seidler, A; Obara-Moszynska, M; Latos-Bielenska, A; Karczewski, M; Zemojtel, T (J Hum Genet, 2016)