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Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
Jamsheer, Aleksander, Olech, Ewelina M, Kozłowski, Kazimierz, Niedziela, Marek, Sowińska-Seidler, Anna, Obara-Moszyńska, Monika, Latos-Bieleńska, Anna, Karczewski, Marek, Zemojtel, TomaszLanguage:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2016.30
Date:
March, 2016
File:
PDF, 1.44 MB
english, 2016