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

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

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...

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Bibliographic Details
Main Authors: Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
Ciliopathy
Short-rib polydactyly syndromes
DYNC2H1
IFT172
WDR19
Exome sequencing
Online Access:https://doi.org/10.1186/s12920-023-01753-y

Internet

https://doi.org/10.1186/s12920-023-01753-y

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