Associated Papers
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG et al.
American Journal of Medical Genetics. Part A, 2022
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
Noguchi M et al.
Journal of Human Genetics, 2014
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B et al.
Human Mutation, 2012
Select a paper to view details