Article
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
The journal of gene medicine - 1 May 2022
Wang Peng, Jin Pengzhen, Zhu Linyan, Chen Min, Qian Yeqing, Zeng Wenshan, Wang Miaomiao, Xu Yuqing, Xu Yanfei, Dong Minyue
Abstract excerpt
BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. A diagnosis of the Walker-Warburg syndrome depends on the clinical manifestations and the whole-exome sequencing after birth, which is unfavorable for an early diagnosis. METHODS: Walker-Warburg Syndrome was suspected in two...
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