title: A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
authors.forename: Thomas
authors.initials: T
authors.lastname: Von Kanel
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: Urs
authors.initials: U
authors.lastname: Schanz
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Dutly
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Huber
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Saller
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000503:physiopathology; D019465:Craniofacial Abnormalities; D021901:DNA, Intergenic / Q000235:genetics*; D057210:Delayed Diagnosis; D002658:Developmental Disabilities / Q000209:etiology* / Q000503:physiopathology; D004200:Diseases in Twins; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006446:Hemoglobin E / Q000235:genetics* / Q000378:metabolism; D006454:Hemoglobins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D009133:Muscular Atrophy / Q000209:etiology / Q000503:physiopathology; D047928:Premature Birth; D012720:Severity of Illness Index; D013557:Switzerland; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014429:Twins, Dizygotic
chemical_list: D021901:DNA, Intergenic; D006454:Hemoglobins; D006446:Hemoglobin E; C020622:hemoglobin B