Title : Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression - Towheed_2021_Ann.Clin.Transl.Neurol_8_2199 |
Author(s) : Towheed A , Hietanen CL , Kamath VG , Singh LN , Ho A , Engelstad K , Cornett K , Montes J , De Vivo D |
Ref : Ann Clin Transl Neurol , 8 :2199 , 2021 |
Abstract : |
PubMedSearch : Towheed_2021_Ann.Clin.Transl.Neurol_8_2199 |
PubMedID: 34612606 |
Gene_locus related to this paper: human-PREPL |