Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14336
Abstract: Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in one of the genes involved in the Notch signaling pathway that tunes the… read more here.
Keywords: identification allelic; spondylocostal dysostosis; dysostosis; lfng variants ... See more keywords
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2018-105920
Abstract: Background Congenital scoliosis (CS) is a common vertebral malformation. Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterised by multiple vertebral malformations and rib anomalies. In a previous study, a compound heterozygosity for a null… read more here.
Keywords: congenital scoliosis; spondylocostal dysostosis; missense variants; tbx6 ... See more keywords