A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK...

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Autores principales: Liying Sun (Autor), Qianwen Zhang (Autor), Qun Li (Autor), Yijun Tang (Autor), Yirou Wang (Autor), Xin Li (Autor), Niu Li (Autor), Jian Wang (Autor), Xiumin Wang (Autor)
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Publicado: BMC, 2020-10-01T00:00:00Z.
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