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

• 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)
• Formato: Libro
• Publicado: BMC, 2020-10-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

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...