Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

• Main Authors: Ying Peng (Author), Lin Zhou (Author), Jing Chen (Author), Xiaoliang Huang (Author), Jialun Pang (Author), Jing Liu (Author), Wanglan Tang (Author), Shuting Yang (Author), Changbiao Liang (Author), Wanqin Xie (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ul...