Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1
Al-Sannaa, N.A., Hoornaert, K.P., Van Laer, L., Al-Abdulwahed, H.Y., Mortier, G.Volume:
63
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104059
Date:
December, 2020
File:
PDF, 3.46 MB
2020