Article
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Seminars in pediatric neurology - 1 Dec 2024
Greene Sunny, Soldatos Ariane, Toro Camilo, Zein Wadih M, Snow Joseph, Lehky Tanya J, Malicdan May Christine V, Introne Wendy J
Abstract excerpt
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.