A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons

• Main Authors: Kamil Możdżeń (Author), Agnieszka Murawska (Author), Julia Hypnar (Author), Edward Pędziwiatr (Author), Jakub Pośpiech (Author), Kinga Kowalska-Duplaga (Author)
• 格式: 图书
• 出版: Termedia Publishing House, 2023-09-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 subtypes, known as type I and type II. This report pr...