Research: A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic

Am J Med Genet A . 2026 Feb;200(2):496-501. doi: 10.1002/ajmg.a.64270. Epub 2025 Sep 27. https://pubmed.ncbi.nlm.nih.gov/41014130/ A Confirmatory Case of Severe

More...