Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

• Päätekijät: Natalia V. Buchinskaya (Tekijä), Aida Zh. Akhenbekova (Tekijä), Aliya A. Bugybay (Tekijä), Mikhail M. Kostik (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: "Paediatrician" Publishers LLC, 2022-07-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions. Pathogenesis is based on pathogenic variants in the LMNA gene leading to anomalies in the nuclear membrane morphology, gene...