New Rare Genetic Neurodevelopmental Disorder Identified
Summary: Researchers have identified a previously unknown rare genetic disease named RPN1-CDG. The study used whole exome sequencing…
Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome | BMC Nephrology
The patient is a 27-year-old male who was admitted to our hospital on March 24, 2022, owing to…
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48. CAS PubMed Google Scholar Carey IM,…
Direct-to-Consumer (DTC) Genetic Testing Market to Double
Dublin, Aug. 21, 2025 (GLOBE NEWSWIRE) — The “Direct-to-Consumer (DTC) Genetic Testing Market – Test Types, Technologies and…
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…