Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report
NKAP基因突变相关的伴有智力障碍的马凡氏表型:病例报告
期刊:Journal of Medical Case Reports
影响因子:0.8
doi:10.1186/s13256-026-05984-2
Semyachkina, Alla N; Nikolaeva, Ekaterina A; Gritsevskaya, Daria Iu; Voinova, Victoria Yu; Kuramagomedova, Rabiat G; Bochenkov, Sergei V; Groznova, Olga S; Parfenenko, Mariia A; Kalashnikova, Olga V; Isupova, Evgenia A