Associated Papers
Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?
Serra G et al.
Journal of Clinical Medicine, 2025
Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.
Shotelersuk V et al.
European Journal of Medical Genetics, 2020
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C et al.
Plos Genetics, 2009
Select a paper to view details