title: De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
authors.forename: Julien
authors.initials: J
authors.lastname: Thevenon
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Nathalie
authors.initials: N
authors.lastname: Mejean
authors.forename: Sylvie
authors.initials: S
authors.lastname: Falcon-Eicher
authors.forename: Marc
authors.initials: M
authors.lastname: Maynadie
authors.forename: Emmanuel
authors.initials: E
authors.lastname: de Maistre
authors.forename: Samuel
authors.initials: S
authors.lastname: Bidot
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Mylène
authors.initials: M
authors.lastname: Beri-Dexheimer
authors.forename: Philippe
authors.initials: P
authors.lastname: Jonveaux
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human