Pacault, Mathilde

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability. [electronic resource] - European journal of medical genetics Dec 2019 - 103586 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2018.11.020 doi


Adaptor Proteins, Signal Transducing--genetics
Autistic Disorder--genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 2--genetics
GTPase-Activating Proteins--genetics
Humans
Intellectual Disability--genetics
Male