rare disease
Research Topic
Language: English
This is a research topic created to provide authors with a place to attach new problem publications.
Research problems linked to this topic
- Around 350 million people worldwide suffer from rare diseases.
- Bilateral primary angiosarcoma of the breast is an extremely rare disease.
- Wiskott-Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene.
- Infantile globoid cell leucodystrophy (GLD) or Krabbe disease is considered to be a rare genetic disease, but in Scandinavia at the present time it is the most common form of the sphingolipidoses.
- Klippel-Trenaunay syndrome (KTS) is a rare combined vascular malformation composed of capillary malformation, lymphatic and/or venous malformation and limb overgrowth, which commonly affects the extremities.
- Cowden syndrome, a rare genetic disorder estimated to occur in 1 in 200,000 live births and inherited as an autosomal dominant mutation in PTEN gene, is part of the PTEN hamartoma tumor syndrome.