title: From blood film to the diagnosis of rare hereditary disorders.
authors.affiliation: Laboratory Haematology Unit, Department of Pathology, Centro Hospitalar do Porto, Porto, Portugal. claudiateixeira@med.up.pt.
authors.forename: Cláudia
authors.initials: C
authors.lastname: Teixeira
authors.forename: José
authors.initials: J
authors.lastname: Barbot
authors.forename: Maria Inês
authors.initials: MI
authors.lastname: Freitas
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006403:Hematologic Tests / Q000379:methods; D006801:Humans; D033162:Incidental Findings; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis; D035583:Rare Diseases / Q000175:diagnosis*; D013921:Thrombocytopenia / Q000151:congenital / Q000175:diagnosis