Article

Title：Testicular yolk sac tumor in Coffin-Siris syndrome with a missense mutation in SMARCA4

2023-08-02

Abstract excerpt

<h4>Background: </h4> ： Coffin-Siris syndrome（CSS,MIM 135900），is a multiple congenital anomaly syndrome characterized by developmental disability，coarse facial features，microcephaly and hypoplastic nails of the fifth fingers or toes. CSS is caused by mutations in several genes of the BRG1-associated factor（BAF） pathway including SMARCA4 . Individuals with SMARCA4 variants have been previously reported and appear...

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Literature Corpus work: a8a70bd3-8634-5641-9f60-6559e8ff5f75
DOI: 10.22541/au.169097046.63925033/v1

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