Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia

• Автори: Xingxing Qiao (Автор), Liping Wu (Автор), Jianjun Tang (Автор), Rong Xiang (Автор), Liangliang Fan (Автор), Hao Huang (Автор), Yaqin Chen (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

BackgroundCampomelic dysplasia (CD) is an autosomal dominant skeletal dysplasia syndrome characterized by shortness and bowing of lower extremities, and often accompanied by XY sex reversal. Heterozygous pathogenic variants of SOX9 or rearrangement involving the long arm of chromosome 17 are the cau...