Rare Diseases Symptoms Automatic Extraction

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.

[cadasil]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene.We describe the clinical, instrumental, and genetic findings in CADASIL patients who carry novel NOTCH3 gene mutations.This study broadens the spectrum of clinical manifestations and genetic alterations associated with this disease.

Diseases presenting "this disease" symptom

  • achondroplasia
  • cadasil
  • cystinuria
  • erythropoietic protoporphyria
  • familial mediterranean fever
  • proteus syndrome
  • scrub typhus
  • systemic capillary leak syndrome

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