Thevenon, Julien

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. [electronic resource] - American journal of medical genetics. Part A Jan 2011 - 126-9 p. digital

Publication Type: Case Reports; Comment; Letter

1552-4833

10.1002/ajmg.a.33809 doi


Abnormalities, Multiple--genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 21--genetics
Core Binding Factor Alpha 2 Subunit--genetics
Diagnosis, Differential
Humans
Intellectual Disability--genetics
Male
Phenotype
Syndrome
Thrombocytopenia--genetics