Article
Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022
Zhang Fang, Wang Zhiwei, Meng Qian, Song Jiedong, Yang Shuting, Tang Xinxin, Zhao Yali, Men Shuai, Wang Leilei
Abstract excerpt
Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate phenotypes in each pregnancy but caused by the same novel mutation. Whole-exome sequencing (WES) was performed on the proband/abortion product-parental trio and a novel missense variant in RET (chr10:43615610C > G; c.2689C > G; p.Arg897Gly) was identified....
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