HIGHLIGHTS
- who: Erika Du2019haenens and collaborators from the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium have published the Article: Expanding the Phenotype of B3GALNT2-Related Disorders, in the Journal: Genes 2022, 694 of /2022/
- what: Though initially ass Here, the authors report a 7-year-old girl with a homozygous frameshift mutation in B3GALNT2, with MDDGA11 (OMIM #615181), a later report identified patients with mild-topresenting with isolated global developmental delay and central nervous system abnorate ID and behavioral problems that may be associated with epilepsy, but with malities initially attributed to perinatal asphyxia . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.