Article
Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Oct 2021
He Guannan, Zhao Jing, Wang Xueyan, Li Shengmei, Qin Shengfang, Chen Ximin, Xi Na
Abstract excerpt
AIM: This study was aimed to identify the potentially pathogenic gene variants that contribute to the etiology of the autosomal recessive renal tubular dysgenesis (RTD) in the aborted fetus. METHODS: Illumina infinium global screening array was used to analyze chromosome karyotype of the aborted fetus. The exomes of the aborted fetus and his parents were sequenced using the whole exome sequencing technology. The...
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