title: Chediak-Higashi syndrome: pathognomonic feature.
authors.affiliation: 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.
authors.forename: Henedina
authors.initials: H
authors.lastname: Antunes
authors.forename: Angela
authors.initials: A
authors.lastname: Pereira
authors.forename: Isabel
authors.initials: I
authors.lastname: Cunha
mesh_terms: D001424:Bacterial Infections / Q000209:etiology; D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D020795:Photophobia / Q000209:etiology; D013163:Splenomegaly / Q000209:etiology; D033921:Vesicular Transport Proteins
chemical_list: C102161:LYST protein, human; D033921:Vesicular Transport Proteins