supported by the National Natural Science Foundation of China(31570246 and 32170279);the Fundamental Research Funds for the Central Universities(2572019CT03)。
目的分析COG6基因复合杂合突变所致先天性糖基化障碍(congenital disorder of glycosylation caused by compound heterozygous mutation of the COG6 gene,COG6-CDG)的临床表现和基因突变特点。方法回顾解放军总医院第七医学中心附属...