Title: A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2
Authors: Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Krzysztof Szczałuba, Aleksander Jamsheer
Journal: Brith Defects Research
Publication type: article
DOI: 10.1002/bdr2.1676