Chediak-Higashi syndrome: pathognomonic feature

Lancet. 2013 Nov 2;382(9903):1514. doi: 10.1016/S0140-6736(13)60020-3. Epub 2013 Mar 29.

Authors

Henedina Antunes¹, Angela Pereira, Isabel Cunha

Affiliation

¹ Paediatrics Department, Hospital de Braga, Braga, Portugal; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal. Electronic address: henedinaantunes@gmail.com.

PMID: 23541537
DOI: 10.1016/S0140-6736(13)60020-3

No abstract available

Publication types

Case Reports

MeSH terms

Bacterial Infections / etiology
Chediak-Higashi Syndrome / complications
Chediak-Higashi Syndrome / genetics
Chediak-Higashi Syndrome / pathology*
Child, Preschool
Female
Hepatomegaly / etiology
Humans
Photophobia / etiology
Splenomegaly / etiology
Vesicular Transport Proteins

Substances

LYST protein, human
Vesicular Transport Proteins