title: Wiskott Aldrich syndrome presenting as congenital thrombocytopenia.
abstract: The application of molecular biology to haematology has provided the opportunity to revisit previous diagnoses, many of which can now be redefined. This report is on a local family previously diagnosed and published as having X-linked thrombocytopenia in 1974, and shows how the application of molecular screening has confirmed the true diagnosis of Wiskott Aldrich syndrome.
authors.affiliation: Birmingham Children's Hospital, Birmingham, and King's Healthcare NHS Trust, London. isaac.lawson@btinternet.com
authors.forename: S E
authors.initials: SE
authors.lastname: Lawson
authors.forename: L
authors.initials: L
authors.lastname: Thompson
authors.forename: M D
authors.initials: MD
authors.lastname: Williams
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis*; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis*; D014960:X Chromosome