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Article

Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A.

European journal of medical genetics - 1 Dec 2022

Zhang Bo, Ding Ying, Ren Xianqing, Song Chundong, Zhang Xia, Wang Fei, Yang Xiaoqing

Abstract excerpt

WT1 disorder is caused by a heterozygous variant in the gene WT1 (Wilms' tumor suppressor gene 1), and is clinically diagnosed as Denys-Drash, Meacham, or Frasier syndrome, on a phenotypic continuum that presents as abnormalities of the urogenital system and gonads. Rarely, manifestations appear in the lung, especially in Frasier syndrome. Here we describe the first noted case of congenital diaphragmatic...

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PMID: 36341869
DOI: 10.1016/j.ejmg.2022.104655

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