A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
一名女孩携带GNAS基因的新型杂合错义变异(p.Ile56Phe),表现出复杂的表型。
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02252-6
Cavarzere, Paolo; Gastaldi, Andrea; Elli, Francesca Marta; Gaudino, Rossella; Peverelli, Erika; Brugnara, Milena; Thiele, Susanne; Granata, Francesca; Mantovani, Giovanna; Antoniazzi, Franco