Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature

por Christopoulos, Panagiotis, Eleftheriades, Anna, Paltoglou, George, Paschalidou, Eleni, Kalampokas, Emmanouil, Florentin, Lina, Billi, Chrysanthi, Eleftheriades, Makarios
Publicado 2022