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

• Main Authors: Liying Sun (Author), Qianwen Zhang (Author), Qun Li (Author), Yijun Tang (Author), Yirou Wang (Author), Xin Li (Author), Niu Li (Author), Jian Wang (Author), Xiumin Wang (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...