Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review

• Main Authors: Guo-qing Zhu (Author), Ping Dong (Author), Dong-yun Li (Author), Chun-chun Hu (Author), Hui-ping Li (Author), Ping Lu (Author), Xue-xia Pan (Author), Lin-lin He (Author), Xiu Xu (Author), Qiong Xu (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. Case presentation We analyzed t...