Article
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
American journal of medical genetics - 15 Feb 2002
Karim Mohammad A, Suzuki Koji, Fukai Kazuyoshi, Oh Jangsuk, Nagle Deborah L, Moore Karen J, Barbosa Ernest, Falik-Borenstein Tzipora, Filipovich Alexandra, Ishida Yasushi, Kivrikko Sirpa, Klein Christoph, Kreuz Friedmar, Levin Alex, Miyajima Hiroaki, Regueiro Jose R, Russo Carolyn, Uyama Eiichiro, Vierimaa Outi, Spritz Richard A
Abstract excerpt
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10-15% of patients exhibit a much milder clinical phenotype and survive to adulthood, but develop progressive and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.