Síndrome de Chédiak-Higashi, alteraciones morfológicas en las células sanguínea y pruebas de laboratorio.

Chédiak-Higashi syndrome, first identified in 1943, is an autosomal recessive disorder that significantly damages numerous organ systems due to its clinical rarity. Due to a mutation in the LYST gene, its main symptom is skin and hair hypopigmentation. Abnormally large and defective lysosomal granul...

• Autor principal: Brito Mejía, Anahí Fernanda (author)
• Outros Autores: Córdova Guarquila, Johann Alexander (author)
• Formato: bachelorThesis
• Idioma: spa
• Publicado em: 2025
• Assuntos: Síndrome de Chédiak-Higashi; Albinismo; Linfohistiocitosis hemofagocítica; Consanguineidad; LYST
• Acesso em linha: http://dspace.unach.edu.ec/handle/51000/15128