title: Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.
authors.forename: Saskia
authors.initials: S
authors.lastname: van der Crabben
authors.forename: Ellen
authors.initials: E
authors.lastname: van Binsbergen
authors.forename: Margreet
authors.initials: M
authors.lastname: Ausems
authors.forename: Martin
authors.initials: M
authors.lastname: Poot
authors.forename: Marc
authors.initials: M
authors.lastname: Bierings
authors.forename: Arjan
authors.initials: A
authors.lastname: Buijs
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human