PMM2‐CDG caused by uniparental disomy: Case report and literature review

por Vaes, Laurien, Tiller, George E., Pérez, Belén, Boyer, Suzanne W., Berry, Susan A., Sarafoglou, Kyriakie, Morava, Eva
Publicado 2020

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

por Starosta, Rodrigo Tzovenos, Kerashvili, Nino, Pruitt, Cassandra, Schultz, Matthew J., Boyer, Suzanne W., Morava, Eva, Lasio, Maria Laura Duque, Grange, Dorothy K.
Publicado 2023