Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
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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