Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
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| Description | scientific article published on 31 March 2016 |
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author: Marek Karczewski Anna Sowinska-Seidler Tomasz Zemojtel Marek Niedziela Kazimierz Kozłowski Anna Latos-Bieleńska Monika Obara-Moszynska Ewelina Bukowska-Olech Aleksander Jamsheer |
| Publication date | March 31, 2016 |
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