title: A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia.
authors.forename: Elias J
authors.initials: EJ
authors.lastname: Sayour
authors.forename: Christopher
authors.initials: C
authors.lastname: Carter
authors.forename: Lamis
authors.initials: L
authors.lastname: Eldjerou
mesh_terms: D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D020125:Mutation, Missense; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D019272:Leukocyte Elastase