Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
Peng WangPengzhen JinLinyan ZhuMin ChenYeqing QianWenshan ZengMiaomiao WangYuqing XuYanfei XuMinyue DongPublished in: The journal of gene medicine (2022)
Our findings expand the spectrum of pathogenic mutations in Walker-Warburg syndrome and provide new insights into the prenatal diagnosis of the disease.
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