Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.
van der Crabben
Saskia
S
van Binsbergen
Ellen
E
Ausems
Margreet
M
Poot
Martin
M
Bierings
Marc
M
Buijs
Arjan
A
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*
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human