A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
SLC35D1 的亚等位基因导致 Schneckenbecken 样发育不良
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddz200
Rautengarten, Carsten; Quarrell, Oliver W; Stals, Karen; Caswell, Richard C; De Franco, Elisa; Baple, Emma; Burgess, Nadia; Jokhi, Roobin; Heazlewood, Joshua L; Offiah, Amaka C; Ebert, Berit; Ellard, Sian