A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression
在摩洛哥一个近亲结婚的家庭中发现一种新的COL4A3功能缺失变异,该变异导致阿尔波特综合征的临床表现多样。
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000540122
Taroua, Oumayma; Askander, Omar; Rhou, Hakima; Bouhouche, Ahmed