资讯

More information: Michael M. Khayat et al, AHDC1 missense mutations in Xia-Gibbs syndrome, Human Genetics and Genomics Advances (2021). DOI: 10.1016/j.xhgg.2021.100049 Provided by Baylor College ...
Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have conducted a study of 20 individuals with Xia-Gibbs syndrome, a rare condition that has symptoms of severe ...
Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have validated a new type of genetic mutation that causes Xia-Gibbs Syndrome (XGS), a rare genetic disorder that results ...
Nicolle McCoy's daughter, Hope, was diagnosed with Xia-Gibbs syndrome at a young age. Xia-Gibbs is a neurological disorder that caused some impairment in her motor skills. Still, her family loved ...
After recently announcing the launch of a platform for Rare Disease registries, such as the Xia-Gibbs Syndrome Registry, this new grant from the NIH National Library of Medicine (NLM) will enable ...