title: DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties.
authors.affiliation: North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
authors.forename: Kristin
authors.initials: K
authors.lastname: Becker
authors.forename: Karol
authors.initials: K
authors.lastname: Howard
authors.forename: Helen
authors.initials: H
authors.lastname: Hughes
mesh_terms: D000328:Adult; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics; D004480:Ectromelia / Q000150:complications*; D004677:Encephalocele / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007859:Learning Disabilities / Q000209:etiology*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics